Allele Registry

Canonical Allele Identifier: PA3057551835

Gene: PMM2 HGNC NCBI

ClinVar RCV:

RCV004587988

ClinVar Variation:

3251582

HGVS (amino-acid)	Matching Registered Transcripts
NP_000294.1:p.His218Arg	CA394689389 NM_000303.3:c.653A>G