ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828360734
Gene: SCN8A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
205018
ClinVar RCV:
RCV000190513
RCV000850597
RCV001852528
RCV002444773
RCV003992223
ClinVar Variation:
208500
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356717.1:p.Thr767Ile
CA204472
NM_001369788.1:c.2300C>T