ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827292451
Gene: SCN8A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
527774
ClinVar RCV:
RCV000636403
RCV003493686
ClinVar Variation:
530514
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317189.1:p.Val1592Ile
CA384879341
NM_001330260.2:c.4774G>A