ClinGen Allele Registry
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Canonical Allele Identifier:
PA916036489
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
176938
ClinVar RCV:
RCV000153892
RCV002516100
ClinVar Variation:
167641
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340877.1:p.Phe995Cys
CA234856
NM_001353948.2:c.2984T>G