Canonical Allele Identifier: PA2827123951
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 484303
ClinVar RCV Id: RCV000574004 RCV000799807 RCV000759914
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308937.1:p.Met516Leu
CA366739525
NM_001322008.2:c.1546A>C
CA366739527
NM_001322008.2:c.1546A>T