ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580229527
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1709553
ClinVar RCV Id:
RCV002289368
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340877.1:p.Ala2006Thr
CA349062910
NM_001353948.2:c.6016G>A