ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827749495
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
495270
ClinVar RCV Id:
RCV000585806
RCV001853962
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340877.1:p.Tyr165His
CA349075669
NM_001353948.2:c.493T>C