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: PA2826465862

Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 419367

ClinVar RCV Id: RCV000486454

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001245210.1:p.Gln813Pro	CA16617609 NM_001258281.1:c.2438A>C