ClinGen Allele Registry
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Canonical Allele Identifier:
PA206670
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
79554
ClinVar RCV:
RCV000059542
RCV000193290
RCV000478850
ClinVar Variation:
68662
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008851.3:p.Trp1801Gly
CA206668
NM_006920.6:c.5401T>G