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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:
CA355379320
Gene: HTR3C
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr3:g.183777943A>C (hg19)
chr3:g.184060155A>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.184060155A>C , CM000665.2:g.184060155A>C
GRCh38
NC_000003.11:g.183777943A>C , CM000665.1:g.183777943A>C
GRCh37
NC_000003.10:g.185260637A>C
NCBI36
NG_012749.1:g.12109A>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000318351.2:c.1147A>C
MANE Select
ENSP00000322617.1:p.Lys383Gln
ENST00000318351.1:c.1147A>C
ENSP00000322617.1:p.Lys383Gln
NM_130770.2:c.1147A>C
NP_570126.2:p.Lys383Gln
NM_130770.3:c.1147A>C
MANE Select
NP_570126.2:p.Lys383Gln
Search 100 bp 5'
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