ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA658817099
Gene: CHD7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
529135
ClinVar RCV Id:
RCV000634436
RCV000766024
RCV002404762
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060250.2:p.Pro2558Leu
CA4760861
NM_017780.4:c.7673C>T