ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827771718
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000022764
RCV001379443
ClinVar Variation:
29883
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340880.1:p.Ala1658Glu
CA281748
NM_001353951.2:c.4973C>A