ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826259708
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000180922
ClinVar Variation:
189968
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001189364.1:p.Thr1300Arg
CA303438
NM_001202435.3:c.3899C>G