Allele Registry

Canonical Allele Identifier: PA180086

Gene: GM2A HGNC NCBI

ClinVar RCV:

RCV000153332

RCV000376352

RCV000675621

ClinVar Variation:

167150

HGVS (amino-acid)	Matching Registered Transcripts
NP_000396.2:p.Ile59Val	CA180085 NM_000405.5:c.175A>G