Canonical Allele Identifier: PA109482
Gene: PMM2 HGNC NCBI

Linked Data

ClinVar Variation Id: 92800
ClinVar RCV Id: RCV000078587 RCV000178072 RCV001270234
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000294.1:p.Ala108Val
CA220618
NM_000303.3:c.323C>T