ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA203840
Gene: SCN1B
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_950238.1:p.Cys121Trp
NM_199037.5:c.363C>G