ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828361217
Gene: SCN8A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
374375
ClinVar RCV Id:
RCV000415327
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356717.1:p.Asn1427Ser
CA16043682
NM_001369788.1:c.4280A>G