ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827771295
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000414265
ClinVar Variation:
372903
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340880.1:p.Gln1416Leu
CA16042437
NM_001353951.2:c.4247A>T