ClinGen Allele Registry
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Canonical Allele Identifier:
PA658705823
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
486739
ClinVar RCV:
RCV000585806
RCV001853962
ClinVar Variation:
495270
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008851.3:p.Tyr165His
CA349075669
NM_006920.6:c.493T>C