ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826009597
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1012964
ClinVar RCV Id:
RCV001311219
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159435.1:p.Val779Ala
CA349064175
NM_001165963.4:c.2336T>C