ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2580413582
Gene: CHD7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2198012
ClinVar RCV Id:
RCV002629060
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060250.2:p.His524Tyr
CA4759517
NM_017780.4:c.1570C>T