ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827770971
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68531
ClinVar RCV Id:
RCV000059404
RCV001344646
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340880.1:p.Gly1222Arg
CA284928
NM_001353951.2:c.3664G>C