ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827772376
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000518488
ClinVar Variation:
448251
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340881.1:p.Arg101Leu
CA349077140
NM_001353952.2:c.302G>T