Canonical Allele Identifier: PA2580113458
Gene: PMM2 HGNC NCBI
ClinVar RCV:
RCV002261482
ClinVar Variation:
1693586
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000294.1:p.Leu243Pro
CA394689703
NM_000303.3:c.728T>C