ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827476844
Gene: SCN11A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
999954
ClinVar RCV Id:
RCV001296021
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336182.1:p.Gln1756Glu
CA352159453
NM_001349253.2:c.5266C>G