ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2580155830
Gene: CHD8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2115055
ClinVar RCV Id:
RCV003046264
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001164100.1:p.Ser2021Thr
CA388880491
NM_001170629.2:c.6062G>C