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: PA2827124759

Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 628315

ClinVar RCV Id: RCV000772772 RCV001241244

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308938.1:p.Ala473Val	CA366739704 NM_001322009.2:c.1418C>T