ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826130706
Gene: SCN8A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001171455.1:p.Tyr1748Cys
CA236327597
NM_001177984.2:c.5243A>G