ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827771781
Gene: SCN1A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340880.1:p.Asp1692Val
CA303433
NM_001353951.2:c.5075A>T