ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827290911
Gene: SCN8A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317189.1:p.Ile268Leu
CA385226551
NM_001330260.2:c.802A>C