ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827771938
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000059445
RCV000188999
RCV001240035
RCV001849308
RCV002468563
RCV002490666
ClinVar Variation:
68570
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340880.1:p.Ala1772Thr
CA285021
NM_001353951.2:c.5314G>A