ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827753747
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
138982
ClinVar RCV Id:
RCV000153886
RCV000457065
RCV002316404
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340877.1:p.Ile1465Val
CA295639
NM_001353948.2:c.4393A>G