Canonical Allele Identifier: PA110021
Gene: PMM2 HGNC NCBI

Linked Data

ClinVar Variation Id: 689645
ClinVar RCV Id: RCV000850396 RCV002265902
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000294.1:p.Pro20Ser
CA277481400
NM_000303.3:c.58C>T