ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827767330
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
448255
ClinVar RCV Id:
RCV000518137
RCV000690853
RCV002289705
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340879.1:p.Arg1585His
CA1942737
NM_001353950.2:c.4754G>A