ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827762509
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000059473
RCV000332135
ClinVar Variation:
68596
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340879.1:p.Phe90Ser
CA285078
NM_001353950.2:c.269T>C