Canonical Allele Identifier: PA2499248669
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1043370
ClinVar RCV Id: RCV001347469

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308941.1:p.Asn57Lys
CA366742799
NM_001322012.1:c.171C>G
CA366742800
NM_001322012.1:c.171C>A