ClinGen Allele Registry
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Canonical Allele Identifier:
PA256592
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000013744
RCV000059448
RCV000636336
ClinVar Variation:
12884
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008851.3:p.Asp188Val
CA256590
NM_006920.6:c.563A>T