ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829675769
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_008851.3:p.Val1283Phe
CA349053549
NM_006920.6:c.3847G>T