ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826259868
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000059411
RCV000254970
RCV000804975
RCV002326783
ClinVar Variation:
68537
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001189364.1:p.Val1390Met
CA284940
NM_001202435.3:c.4168G>A