ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA285023
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_008851.3:p.Ala1772Thr
CA285021
NM_006920.6:c.5314G>A