Canonical Allele Identifier: PA2499230886
Gene: PMM2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1037901
ClinVar RCV Id: RCV001341128
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000294.1:p.Leu112Val
CA7894003
NM_000303.3:c.334C>G