Allele Registry

Canonical Allele Identifier: PA109563

Gene: PMM2 HGNC NCBI

ClinVar RCV:

RCV000008146

RCV000724043

ClinVar Variation:

7707

HGVS (amino-acid)	Matching Registered Transcripts
NP_000294.1:p.Asn216Ile	CA254229 NM_000303.3:c.647A>T