ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828361497
Gene: SCN8A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
421936
ClinVar RCV:
RCV000494231
RCV002281575
RCV003588637
ClinVar Variation:
430208
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356717.1:p.Thr1746Asn
CA384885535
NM_001369788.1:c.5237C>A