ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA094682
Gene: SMN1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000335.1:p.Ser262Ile
NM_000344.4:c.785G>T