Canonical Allele Identifier: PA114237
Gene: GM2A HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_000396.2:p.Glu54Ter
NM_000405.5:c.[156_168del;171C>T;174C>A]

NM_000405.5:c.[156_168del;171C>T;174C>G]

NM_000405.5:c.160G>T