Allele Registry

Canonical Allele Identifier: PA3057551816

Gene: PMM2 HGNC NCBI

ClinVar RCV:

RCV004586284

ClinVar Variation:

3251840

HGVS (amino-acid)	Matching Registered Transcripts
NP_000294.1:p.Pro69Ala	CA277488398 NM_000303.3:c.205C>G