ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916036993
Gene: SCN1A
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001340890.1:p.Val947Ala
NM_001353961.2:c.2840T>C