Allele Registry

Canonical Allele Identifier: PA658825628

Gene: PMM2 HGNC NCBI

ClinVar RCV:

RCV000672270

ClinVar Variation:

556280

HGVS (amino-acid)	Matching Registered Transcripts
NP_000294.1:p.Phe206Leu	CA394698034 NM_000303.3:c.616T>C CA394698039 NM_000303.3:c.618C>A CA394698040 NM_000303.3:c.618C>G