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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1947202308
Gene: DRD4
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.640336_640339delinsAGAG , CM000673.2:g.640336_640339delinsAGAG
GRCh38
NC_000011.9:g.640336_640339delinsAGAG , CM000673.1:g.640336_640339delinsAGAG
GRCh37
NC_000011.8:g.630336_630339delinsAGAG
NCBI36
NG_021241.1:g.8032_8035delinsAGAG
Transcript Alleles
HGVS
Amino-acid Change
ENST00000176183.6:c.1057+30_1057+33delinsAGAG
MANE Select
ENSP00000176183.5:n.1057+30_1057+33delinsAGAG
ENST00000176183.5:c.1057+30_1057+33delinsAGAG
ENSP00000176183.5:n.1057+30_1057+33delinsAGAG
NM_000797.3:c.1057+30_1057+33delinsAGAG
NP_000788.2:n.1057+30_1057+33delinsAGAG
NM_000797.4:c.1057+30_1057+33delinsAGAG
MANE Select
NP_000788.2:n.1057+30_1057+33delinsAGAG
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