Allele Registry

Canonical Allele Identifier: PA110031

Gene: PMM2 HGNC NCBI

ClinVar RCV:

RCV000409367

RCV001545880

ClinVar Variation:

371307

HGVS (amino-acid)	Matching Registered Transcripts
NP_000294.1:p.Pro69Ser	CA16041794 NM_000303.3:c.205C>T