Canonical Allele Identifier: PA2827139531
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 484317
ClinVar RCV Id: RCV000568346

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308944.1:p.Asn759Lys
CA366734682
NM_001322015.1:c.2277C>G
CA366734684
NM_001322015.1:c.2277C>A