Canonical Allele Identifier: PA2573270408
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1507045
ClinVar RCV Id: RCV002009287

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060250.2:p.Gln579Lys
CA371311643
NM_017780.4:c.1735C>A