ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827771323
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68543
ClinVar RCV Id:
RCV000059417
RCV001267274
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340880.1:p.Ala1430Pro
CA284958
NM_001353951.2:c.4288G>C