Allele Registry

Canonical Allele Identifier: PA109962

Gene: PMM2 HGNC NCBI

ClinVar RCV:

RCV000169083

RCV000481553

RCV002252013

ClinVar Variation:

188763

HGVS (amino-acid)	Matching Registered Transcripts
NP_000294.1:p.Phe157Ser	CA273927 NM_000303.3:c.470T>C