ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827776079
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
167646
ClinVar RCV Id:
RCV000471353
RCV000515440
RCV000710209
RCV002408682
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340883.1:p.Arg579Gln
CA234868
NM_001353954.2:c.1736G>A