ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826013804
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000636342
ClinVar Variation:
530466
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159436.1:p.Asp1674Asn
CA1942691
NM_001165964.3:c.5020G>A