ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826013265
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000059411
RCV000254970
RCV000804975
RCV002326783
ClinVar Variation:
68537
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159436.1:p.Val1362Met
CA284940
NM_001165964.3:c.4084G>A