ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA108378
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000059523
RCV000529623
ClinVar Variation:
68643
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159435.1:p.Thr1658Met
CA285192
NM_001165963.4:c.4973C>T