Allele Registry

Canonical Allele Identifier: PA109952

Gene: PMM2 HGNC NCBI

ClinVar RCV:

RCV000414479

RCV000596795

RCV000670622

ClinVar Variation:

197658

554908

HGVS (amino-acid)	Matching Registered Transcripts
NP_000294.1:p.Phe144Leu	CA245915 NM_000303.3:c.430T>C CA394696677 NM_000303.3:c.432C>A CA394696678 NM_000303.3:c.432C>G