ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827776268
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
189901
ClinVar RCV Id:
RCV000180853
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340883.1:p.Trp742Leu
CA303254
NM_001353954.2:c.2225G>T