Allele Registry

Canonical Allele Identifier: PA109572

Gene: PMM2 HGNC NCBI

ClinVar RCV:

RCV000485565

RCV000675138

ClinVar Variation:

198713

HGVS (amino-acid)	Matching Registered Transcripts
NP_000294.1:p.Asn216Ser	CA247510 NM_000303.3:c.647A>G