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Canonical Allele Identifier: Get Identifier
Gene: SMN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000305857.5:p.[Glu286_Ser292delinsArgArgLysValLeuThrPhe;Asn294delinsLysLeuArgSerLysSerAla]
CA658683392
ENST00000351205.8:c.855dup