ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826260556
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000059444
RCV001854242
ClinVar Variation:
68569
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001189364.1:p.Met1780Thr
CA285018
NM_001202435.3:c.5339T>C