ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916037008
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68570
ClinVar RCV Id:
RCV000059445
RCV000188999
RCV001240035
RCV002468563
RCV001849308
RCV002490666
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340890.1:p.Ala969Thr
CA285021
NM_001353961.2:c.2905G>A