ClinGen Allele Registry
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Canonical Allele Identifier:
PA145258
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
79451
ClinVar RCV:
RCV000059434
RCV001003955
RCV001229900
ClinVar Variation:
68559
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008851.3:p.Arg1646His
CA145256
NM_006920.6:c.4937G>A