Canonical Allele Identifier: PA2741814392
Gene: PMM2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2771692
ClinVar RCV Id: RCV003510426
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000294.1:p.Glu93Asp
CA394696132
NM_000303.3:c.279G>C
CA394696134
NM_000303.3:c.279G>T