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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:
CA2611722032
Gene: DRD4
HGNC
NCBI
Linked Data
gnomAD v4:
11-637529-C-CCTGGCGG
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.637531_637537dup , CM000673.2:g.637531_637537dup
GRCh38
NC_000011.9:g.637531_637537dup , CM000673.1:g.637531_637537dup
GRCh37
NC_000011.8:g.627531_627537dup
NCBI36
NG_021241.1:g.5227_5233dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000176183.6:c.227_233dup
MANE Select
ENSP00000176183.5:p.Ala79GlyfsTer?
ENST00000176183.5:c.227_233dup
ENSP00000176183.5:p.Ala79GlyfsTer?
NM_000797.3:c.227_233dup
NP_000788.2:p.Ala79GlyfsTer?
NM_000797.4:c.227_233dup
MANE Select
NP_000788.2:p.Ala79GlyfsTer?
Search 100 bp 5'
Search 100 bp 3'