ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA303609
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
190031
ClinVar RCV Id:
RCV000180987
RCV001035456
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159435.1:p.Glu1221Gln
CA303606
NM_001165963.4:c.3661G>C