Canonical Allele Identifier: PA2827116826
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 41712
ClinVar RCV Id: RCV000034627 RCV000688719 RCV003298041
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308935.1:p.Pro748Leu
CA011432
NM_001322006.2:c.2243C>T