Allele Registry

Canonical Allele Identifier: PA645468462

Gene: PMM2 HGNC NCBI

ClinVar RCV:

RCV000487831

RCV000675084

RCV000780613

RCV005017881

ClinVar Variation:

425093

3581380

HGVS (amino-acid)	Matching Registered Transcripts
NP_000294.1:p.Phe31Leu	CA7893884 NM_000303.3:c.91T>C CA7893886 NM_000303.3:c.93C>A CA394695177 NM_000303.3:c.93C>G