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: PA2827124766

Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1492854

ClinVar RCV Id: RCV001981285 RCV002407258

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308938.1:p.Lys475Gln	CA366739697 NM_001322009.2:c.1423A>C