ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827781720
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000553399
ClinVar Variation:
461241
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340886.1:p.Cys336Trp
CA349071602
NM_001353957.2:c.1008T>G