Canonical Allele Identifier: PA2499240680
Gene: GM2A HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001161079.1:p.Leu93Phe
CA361807653
NM_001167607.3:c.277C>T
CA1591314927
NM_001167607.3:c.276_277delinsTT