ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827785400
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000530855
ClinVar Variation:
461256
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340887.1:p.Leu862Pro
CA349061630
NM_001353958.2:c.2585T>C