ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2580155826
Gene: CHD8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2133371
ClinVar RCV Id:
RCV003064026
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001164100.1:p.Ala2013Thr
CA388880541
NM_001170629.2:c.6037G>A