ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827785480
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68600
ClinVar RCV Id:
RCV000059477
RCV001548630
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340887.1:p.His911Tyr
CA285087
NM_001353958.2:c.2731C>T