Allele Registry

Canonical Allele Identifier: PA109641

Gene: PMM2 HGNC NCBI

ClinVar Allele:

22749

ClinVar RCV:

RCV000008149

RCV001530152

ClinVar Variation:

7710

HGVS (amino-acid)	Matching Registered Transcripts
NP_000294.1:p.Asp65Tyr	CA254232 NM_000303.3:c.193G>T