ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826013336
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68630
ClinVar RCV Id:
RCV000059509
RCV000521069
RCV001067468
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159436.1:p.Gly1405Glu
CA285162
NM_001165964.3:c.4214G>A