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Canonical Allele Identifier: Get Identifier
Gene: SMN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000423298.1:p.Tyr210del
CA360097331
ENST00000514951.5:c.627T>A
CA360097332
ENST00000514951.5:c.627T>G
CA360097362
ENST00000514951.5:c.630T>A
CA360097365
ENST00000514951.5:c.630T>G