ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA317665
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000189019
RCV002517890
ClinVar Variation:
206880
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159435.1:p.Ser1918Phe
CA317662
NM_001165963.4:c.5753C>T