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Canonical Allele Identifier: Get Identifier
Gene: SMN2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000370119.4:p.[Gly6_Val12delinsArgArgGlnTrpTrpArgArg;Glu14_Leu20delinsGlyAlaGlyGly;Arg23_Asp35delinsAlaValProAlaArgHisArgProGluArg]
CA1554041041
ENST00000380743.9:c.15dup