ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827783024
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1203729
ClinVar RCV Id:
RCV001569863
RCV001866017
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340886.1:p.Ala1283Val
CA349053215
NM_001353957.2:c.3848C>T