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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:
CA660417015
Gene: VAX1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1293711603
gnomAD v4:
10-117131093-A-G
MyVariant Identifiers:
chr10:g.118890604A>G (hg19)
chr10:g.117131093A>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.117131093A>G , CM000672.2:g.117131093A>G
GRCh38
NC_000010.10:g.118890604A>G , CM000672.1:g.118890604A>G
GRCh37
NC_000010.9:g.118880594A>G
NCBI36
NG_012317.1:g.12209T>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000277905.6:c.*1116T>C
ENSP00000277905.2:n.*1116T>C
NM_199131.2:c.*1116T>C
NP_954582.1:n.*1116T>C
NM_199131.3:c.*1116T>C
NP_954582.1:n.*1116T>C
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