Allele Registry

Canonical Allele Identifier: PA110037

Gene: PMM2 HGNC NCBI

ClinVar RCV:

RCV000008161

ClinVar Variation:

7722

HGVS (amino-acid)	Matching Registered Transcripts
NP_000294.1:p.Thr226Ser	CA340691 NM_000303.3:c.677C>G CA394689486 NM_000303.3:c.676A>T