ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645449006
Gene: SCN8A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000420545
RCV003588629
ClinVar Variation:
378553
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055006.1:p.Thr166Ile
CA16606307
NM_014191.4:c.497C>T