ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA285233
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000059538
RCV001246264
ClinVar Variation:
68658
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008851.3:p.Gly177Glu
CA285231
NM_006920.6:c.530G>A