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Canonical Allele Identifier: Get Identifier
Gene: SMN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000424926.1:p.Val125Leu
CA360094159
ENST00000506163.5:c.373G>C
CA360094163
ENST00000506163.5:c.373G>T