Canonical Allele Identifier: PA109673
Gene: PMM2 HGNC NCBI

Linked Data

ClinVar Variation Id: 7717
ClinVar RCV Id: RCV000008156 RCV000153745 RCV000623621
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000294.1:p.Cys241Ser
CA234698
NM_000303.3:c.722G>C
CA394689686
NM_000303.3:c.721T>A