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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:
CA2611722050
Gene: DRD4
HGNC
NCBI
Linked Data
gnomAD v4:
11-637531-T-TGGC
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.637535_637537dup , CM000673.2:g.637535_637537dup
GRCh38
NC_000011.9:g.637535_637537dup , CM000673.1:g.637535_637537dup
GRCh37
NC_000011.8:g.627535_627537dup
NCBI36
NG_021241.1:g.5231_5233dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000176183.6:c.231_233dup
MANE Select
ENSP00000176183.5:p.Ala78_Ala79insAla
ENST00000176183.5:c.231_233dup
ENSP00000176183.5:p.Ala78_Ala79insAla
NM_000797.3:c.231_233dup
NP_000788.2:p.Ala78_Ala79insAla
NM_000797.4:c.231_233dup
MANE Select
NP_000788.2:p.Ala78_Ala79insAla
Search 100 bp 5'
Search 100 bp 3'