ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827777665
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001971003
ClinVar Variation:
1474062
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340883.1:p.Thr1646Ser
CA349069931
NM_001353954.2:c.4936A>T