Canonical Allele Identifier: PA2580113378
Gene: PMM2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2442175
ClinVar RCV Id: RCV003148506
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000294.1:p.Phe122Leu
CA394696525
NM_000303.3:c.364T>C
CA394696530
NM_000303.3:c.366C>A
CA394696531
NM_000303.3:c.366C>G