Canonical Allele Identifier: PA2741814394
Gene: PMM2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2841506
ClinVar RCV Id: RCV003621151
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000294.1:p.Val129Ala
CA394696575
NM_000303.3:c.386T>C