Canonical Allele Identifier: PA2827119028
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 188287
ClinVar RCV Id: RCV000168273 RCV000486825 RCV000574365 RCV003468829 RCV003995619
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308936.1:p.Lys504Glu
CA010309
NM_001322007.2:c.1510A>G