ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA108602
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000059530
RCV000465483
RCV000501085
ClinVar Variation:
68650
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159435.1:p.Tyr1694Cys
CA285210
NM_001165963.4:c.5081A>G