Allele Registry

Canonical Allele Identifier: PA2827132019

Gene: PMS2 HGNC NCBI

Linked Data

ClinVar RCV:

RCV000115684

RCV000206341

RCV000212871

RCV000411108

RCV000515369

RCV000759201

RCV001355417

RCV003149800

RCV003415891

ClinVar Variation:

127780

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308941.1:p.Asp473Asn	CA011325 NM_001322012.1:c.1417G>A