ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916069028
Gene: SMN1
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_075012.1:p.Tyr130His
NM_022874.2:c.388T>C