ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826011920
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000059462
RCV000518904
RCV001854243
ClinVar Variation:
68586
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159436.1:p.Tyr388His
CA266098
NM_001165964.3:c.1162T>C