ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826008982
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2898671
ClinVar RCV Id:
RCV003753079
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159435.1:p.Gly232Asp
CA349073897
NM_001165963.4:c.695G>A