ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826012883
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
194721
ClinVar RCV Id:
RCV000188914
RCV000515245
RCV000724750
RCV001444749
RCV001132318
RCV002336423
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159436.1:p.Ala1133Thr
CA240854
NM_001165964.3:c.3397G>A