ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827781027
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_001340884.1:p.Arg1849Gln
CA16617277
NM_001353955.2:c.5546G>A