Canonical Allele Identifier: PA110141
Gene: PMM2 HGNC NCBI

Linked Data

ClinVar Variation Id: 7725
ClinVar RCV Id: RCV000008164
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000294.1:p.Val44Ala
CA254236
NM_000303.3:c.131T>C