Canonical Allele Identifier: PA109713
Gene: PMM2 HGNC NCBI

Linked Data

ClinVar Variation Id: 21143
ClinVar RCV Id: RCV000020235 RCV000479820 RCV001257997
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000294.1:p.Glu139Lys
CA341665
NM_000303.3:c.415G>A