Canonical Allele Identifier: PA2827134188
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 455686
ClinVar RCV Id: RCV000525126 RCV002431525
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308942.1:p.Leu527Phe
CA153224759
NM_001322013.1:c.1579C>T