Allele Registry

Canonical Allele Identifier: PA109630

Gene: PMM2 HGNC NCBI

ClinVar Allele:

22753

2835038

ClinVar RCV:

RCV000008153

RCV003463305

ClinVar Variation:

7714

2677894

HGVS (amino-acid)	Matching Registered Transcripts
NP_000294.1:p.Asp223Glu	CA254234 NM_000303.3:c.669C>G CA394689458 NM_000303.3:c.669C>A