Canonical Allele Identifier: PA2827134740
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 484317
ClinVar RCV Id: RCV000568346

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308942.1:p.Asn671Lys
CA366734682
NM_001322013.1:c.2013C>G
CA366734684
NM_001322013.1:c.2013C>A