Allele Registry

Canonical Allele Identifier: PA2573169408

Gene: GM2A HGNC NCBI

ClinVar RCV:

RCV002051322

RCV002545675

ClinVar Variation:

1350409

HGVS (amino-acid)	Matching Registered Transcripts
NP_000396.2:p.Arg169His	CA3517986 NM_000405.5:c.506G>A