ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827762946
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68577
ClinVar RCV Id:
RCV000059453
RCV002513781
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340879.1:p.Thr217Lys
CA285039
NM_001353950.2:c.650C>A