ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA658701984
Gene: CHD7
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_060250.2:p.Trp1785Ter
NM_017780.4:c.5354G>A
NM_017780.4:c.5355G>A