ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827750567
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
206761
ClinVar RCV Id:
RCV000188864
RCV001528187
RCV001857645
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340877.1:p.Tyr426Cys
CA317209
NM_001353948.2:c.1277A>G