ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827758269
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001035614
ClinVar Variation:
834846
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340878.1:p.Thr864Arg
CA349061726
NM_001353949.2:c.2591C>G