ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827786792
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000188998
RCV001065456
RCV003156083
ClinVar Variation:
206863
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340887.1:p.Phe1736Tyr
CA317597
NM_001353958.2:c.5207T>A