ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827771368
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000059419
ClinVar Variation:
68545
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340880.1:p.Tyr1451Cys
CA284964
NM_001353951.2:c.4352A>G