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: PA915964024

Gene: MSH6 HGNC NCBI

Linked Data

ClinVar Variation Id: 819349

ClinVar RCV Id: RCV001011829

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000170.1:p.Cys496Ser	CA346746068 NM_000179.3:c.1486T>A CA346746071 NM_000179.3:c.1487G>C