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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:
CA440618913
Gene:
Linked Data
dbSNP Id:
rs1578688691
gnomAD v4:
4-102500905-T-C
MyVariant Identifiers:
chr4:g.103422062T>C (hg19)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.102500905T>C , CM000666.2:g.102500905T>C
GRCh38
NC_000004.11:g.103422062T>C , CM000666.1:g.103422062T>C
GRCh37
NC_000004.10:g.103641094T>C
NCBI36
NG_050628.1:g.4577T>C
Transcript Alleles
HGVS
Amino-acid change
XM_011532467.1:c.643+344A>G
XP_011530769.1:n.643+344A>G
NR_136202.1:n.48+1534A>G
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