Allele Registry

Canonical Allele Identifier: PA109685

Gene: PMM2 HGNC NCBI

ClinVar RCV:

RCV000008159

ClinVar Variation:

7720

HGVS (amino-acid)	Matching Registered Transcripts
NP_000294.1:p.Cys9Tyr	CA254235 NM_000303.3:c.26G>A