ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827778443
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
206928
ClinVar RCV Id:
RCV000189072
RCV000636394
RCV001252613
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340884.1:p.Glu158Gln
CA317752
NM_001353955.2:c.472G>C