ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA891848965
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002314381
ClinVar Variation:
588285
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008851.3:p.Ser626Cys
CA349067383
NM_006920.6:c.1876A>T