Allele Registry

Canonical Allele Identifier: PA109899

Gene: PMM2 HGNC NCBI

ClinVar RCV:

RCV000409634

RCV001584105

ClinVar Variation:

371406

HGVS (amino-acid)	Matching Registered Transcripts
NP_000294.1:p.Ile153Thr	CA7894086 NM_000303.3:c.458T>C