ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645403279
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
372741
ClinVar RCV Id:
RCV000413156
RCV003992286
RCV003588626
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159435.1:p.Glu788Lys
CA16042443
NM_001165963.4:c.2362G>A