ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA107228
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68592
ClinVar RCV Id:
RCV000059468
RCV000255099
RCV001352915
RCV003992174
RCV001382870
RCV002247462
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159435.1:p.Arg859Cys
CA266104
NM_001165963.4:c.2575C>T