ClinGen Allele Registry
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Canonical Allele Identifier:
PA284933
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68533
ClinVar RCV Id:
RCV000059406
RCV000636387
RCV000188926
RCV001836729
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008851.3:p.Arg1234Gln
CA284931
NM_006920.6:c.3701G>A