ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA106973
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_001159435.1:p.Ala1783Thr
CA285021
NM_001165963.4:c.5347G>A