ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826260432
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68564
ClinVar RCV Id:
RCV000059439
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001189364.1:p.Met1714Arg
CA285003
NM_001202435.3:c.5141T>G