ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826013822
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001090359
RCV001862677
ClinVar Variation:
870750
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159436.1:p.Thr1681Asn
CA349069066
NM_001165964.3:c.5042C>A