ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826013575
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68636
ClinVar RCV Id:
RCV000059515
RCV000986874
RCV001513378
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159436.1:p.Arg1547Cys
CA219777
NM_001165964.3:c.4639C>T