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: PA891864087

Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 525775

ClinVar RCV Id: RCV000630058

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000526.2:p.Asn53Tyr	CA366744956 NM_000535.7:c.157A>T