ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827771709
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000180874
RCV002515208
ClinVar Variation:
189922
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340880.1:p.Ser1655Phe
CA303314
NM_001353951.2:c.4964C>T