ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2741964405
Gene: CHD7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2733968
ClinVar RCV Id:
RCV003499909
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060250.2:p.Phe2124del
CA2697549948
NM_017780.4:c.6372_6374del