Canonical Allele Identifier: PA2827105361
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1043370
ClinVar RCV Id: RCV001347469

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308933.1:p.Asn233Lys
CA366742799
NM_001322004.2:c.699C>G
CA366742800
NM_001322004.2:c.699C>A