Allele Registry

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.

Canonical Allele Identifier: PA2826463947

Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 142110

ClinVar RCV Id: RCV000130945 RCV001206567

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001245210.1:p.Gly344Cys	CA017600 NM_001258281.1:c.1030G>T