ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827754774
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000636279
ClinVar Variation:
530420
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340877.1:p.Ala1724Val
CA349068800
NM_001353948.2:c.5171C>T