ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827292932
Gene: SCN8A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
373225
ClinVar RCV Id:
RCV000413396
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317189.1:p.Glu1963Lys
CA16042906
NM_001330260.2:c.5887G>A