ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA266103
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000059466
RCV002514307
RCV003992173
ClinVar Variation:
68590
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008851.3:p.Tyr779Cys
CA266101
NM_006920.6:c.2336A>G