ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658664309
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000553399
ClinVar Variation:
461241
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008851.3:p.Cys336Trp
CA349071602
NM_006920.6:c.1008T>G