Canonical Allele Identifier: PA916069012
Gene: SMN1 HGNC NCBI

Linked Data

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Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_075012.1:p.Trp102Ter
NM_022874.2:c.305G>A

NM_022874.2:c.306G>A