ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826260791
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
189893
ClinVar RCV Id:
RCV000180845
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001189364.1:p.Arg1927Thr
CA303228
NM_001202435.3:c.5780G>C