ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827761537
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
427080
ClinVar RCV Id:
RCV000489093
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340878.1:p.Met1769Val
CA349068113
NM_001353949.2:c.5305A>G