Canonical Allele Identifier: PA2580113334
Gene: PMM2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1699797
ClinVar RCV Id: RCV002273654 RCV003096168
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000294.1:p.Asp14Asn
CA394694847
NM_000303.3:c.40G>A