ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827761830
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
421612
ClinVar RCV Id:
RCV000481884
RCV001043102
RCV002350068
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340878.1:p.Arg1850Gln
CA16617277
NM_001353949.2:c.5549G>A