ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827777066
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_001340883.1:p.Ala1299Val
CA349053215
NM_001353954.2:c.3896C>T