ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827291837
Gene: SCN8A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1436618
ClinVar RCV Id:
RCV001931675
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317189.1:p.Asn1043Ser
CA384892583
NM_001330260.2:c.3128A>G