ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916037010
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000414903
ClinVar Variation:
374394
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340890.1:p.Val970Ala
CA16043651
NM_001353961.2:c.2909T>C