Allele Registry

Canonical Allele Identifier: PA1139668597

Gene: PMM2 HGNC NCBI

ClinVar RCV:

RCV001089469

ClinVar Variation:

694260

HGVS (amino-acid)	Matching Registered Transcripts
NP_000294.1:p.Gly117Cys	CA394696495 NM_000303.3:c.349G>T