ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826260395
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68650
ClinVar RCV Id:
RCV000059530
RCV000465483
RCV000501085
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001189364.1:p.Tyr1694Cys
CA285210
NM_001202435.3:c.5081A>G