Allele Registry

Canonical Allele Identifier: PA109999

Gene: PMM2 HGNC NCBI

ClinVar RCV:

RCV000008162

RCV000790784

RCV001003988

RCV003952346

ClinVar Variation:

7723

HGVS (amino-acid)	Matching Registered Transcripts
NP_000294.1:p.Pro113Leu	CA220619 NM_000303.3:c.338C>T