Allele Registry

Canonical Allele Identifier: PA274411

Gene: PMM2 HGNC NCBI

ClinVar RCV:

RCV000169562

ClinVar Variation:

189141

HGVS (amino-acid)	Matching Registered Transcripts
NP_000294.1:p.Phe207Ser	CA274410 NM_000303.3:c.620T>C