ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826259940
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000059416
RCV000188935
RCV002514045
ClinVar Variation:
68542
206814
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001189364.1:p.Gly1433Arg
CA284955
NM_001202435.3:c.4297G>A
CA317416
NM_001202435.3:c.4297G>C