ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827780919
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68660
ClinVar RCV Id:
RCV000059540
RCV000489760
RCV000764284
RCV000792317
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340884.1:p.Glu1783Lys
CA266126
NM_001353955.2:c.5347G>A