ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827777362
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000180931
RCV002516539
ClinVar Variation:
189976
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340883.1:p.Ser1459Phe
CA303462
NM_001353954.2:c.4376C>T