ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828360444
Gene: SCN8A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1396861
ClinVar RCV Id:
RCV001903214
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356717.1:p.Lys440Arg
CA236263830
NM_001369788.1:c.1319A>G