ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA317211
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
206761
ClinVar RCV Id:
RCV000188864
RCV001528187
RCV001857645
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159435.1:p.Tyr426Cys
CA317209
NM_001165963.4:c.1277A>G