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: PA2827125192

Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 185339

ClinVar RCV Id: RCV000164743 RCV000206423 RCV000410095 RCV000486892 RCV000761045 RCV000781746 RCV001358129

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308938.1:p.Ala590Val	CA010984 NM_001322009.2:c.1769C>T