ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827759632
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
836073
ClinVar RCV Id:
RCV001037109
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340878.1:p.Val1283Phe
CA349053549
NM_001353949.2:c.3847G>T