ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829884852
Gene: CHD7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2185518
ClinVar RCV Id:
RCV002632517
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060250.2:p.Pro2743Arg
CA371307830
NM_017780.4:c.8228C>G