ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827766823
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000188949
RCV000766760
RCV001211105
ClinVar Variation:
206826
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340879.1:p.Leu1438Phe
CA317455
NM_001353950.2:c.4312C>T