Canonical Allele Identifier: PA2827101427
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 187540
ClinVar RCV Id: RCV000167278 RCV000213869 RCV000464460 RCV000656950 RCV003491917 RCV003995577
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308932.1:p.Ile517Phe
CA010544
NM_001322003.2:c.1549A>T