Allele Registry

Canonical Allele Identifier: PA245090

Gene: PMM2 HGNC NCBI

ClinVar RCV:

RCV000178071

ClinVar Variation:

197130

HGVS (amino-acid)	Matching Registered Transcripts
NP_000294.1:p.Pro113Ser	CA245089 NM_000303.3:c.337C>T