ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829884810
Gene: CHD7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
910664
ClinVar RCV Id:
RCV001162607
RCV001303651
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060250.2:p.Ser2723Asn
CA4760958
NM_017780.4:c.8168G>A