ClinGen Allele Registry
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This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier:
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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