ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658659130
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000539521
ClinVar Variation:
461252
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159435.1:p.Thr841Arg
CA349062549
NM_001165963.4:c.2522C>G