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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:
CA2573868870
Gene: DRD4
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.640328_640344del , CM000673.2:g.640328_640344del
GRCh38
NC_000011.9:g.640328_640344del , CM000673.1:g.640328_640344del
GRCh37
NC_000011.8:g.630328_630344del
NCBI36
NG_021241.1:g.8024_8040del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000176183.6:c.1057+22_1057+38del
MANE Select
ENSP00000176183.5:n.1057+22_1057+38del
ENST00000176183.5:c.1057+22_1057+38del
ENSP00000176183.5:n.1057+22_1057+38del
NM_000797.3:c.1057+22_1057+38del
NP_000788.2:n.1057+22_1057+38del
NM_000797.4:c.1057+22_1057+38del
MANE Select
NP_000788.2:n.1057+22_1057+38del
Search 100 bp 5'
Search 100 bp 3'