ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826012697
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000032605
RCV000794577
ClinVar Variation:
12890
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159436.1:p.Leu958Phe
CA281911
NM_001165964.3:c.2872C>T