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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:
CA1947202301
Gene: DRD4
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.640334_640338delinsGGAGA , CM000673.2:g.640334_640338delinsGGAGA
GRCh38
NC_000011.9:g.640334_640338delinsGGAGA , CM000673.1:g.640334_640338delinsGGAGA
GRCh37
NC_000011.8:g.630334_630338delinsGGAGA
NCBI36
NG_021241.1:g.8030_8034delinsGGAGA
Transcript Alleles
HGVS
Amino-acid Change
ENST00000176183.6:c.1057+28_1057+32delinsGGAGA
MANE Select
ENSP00000176183.5:n.1057+28_1057+32delinsGGAGA
ENST00000176183.5:c.1057+28_1057+32delinsGGAGA
ENSP00000176183.5:n.1057+28_1057+32delinsGGAGA
NM_000797.3:c.1057+28_1057+32delinsGGAGA
NP_000788.2:n.1057+28_1057+32delinsGGAGA
NM_000797.4:c.1057+28_1057+32delinsGGAGA
MANE Select
NP_000788.2:n.1057+28_1057+32delinsGGAGA
Search 100 bp 5'
Search 100 bp 3'