Canonical Allele Identifier: PA915990005
Gene: GM2A HGNC NCBI

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Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_001161079.1:p.Glu54Ter
NM_001167607.3:c.[156_168del;171C>T;174C>...

NM_001167607.3:c.[156_168del;171C>T;174C>...

NM_001167607.3:c.160G>T