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Canonical Allele Identifier: Get Identifier
Gene: SMN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Transcript change
ENSP00000305857.5:p.Pro246Ser
ENST00000351205.8:c.[734dup;736C>G;738A>C...

ENST00000351205.8:c.736C>T