Allele Registry

Canonical Allele Identifier: PA109930

Gene: PMM2 HGNC NCBI

ClinVar RCV:

RCV000008150

RCV000409396

RCV000624449

RCV000790706

ClinVar Variation:

7711

371231

HGVS (amino-acid)	Matching Registered Transcripts
NP_000294.1:p.Phe119Leu	CA220620 NM_000303.3:c.357C>A CA16041798 NM_000303.3:c.355T>C CA394696509 NM_000303.3:c.357C>G