Canonical Allele Identifier: PA2580113372
Gene: PMM2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2137777
ClinVar RCV Id: RCV003058490
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000294.1:p.Thr118Ser
CA394696500
NM_000303.3:c.352A>T
CA394696503
NM_000303.3:c.353C>G