Canonical Allele Identifier: PA645399456
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 420545
ClinVar RCV Id: RCV000482290

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060250.2:p.Ala1999Thr
CA16618674
NM_017780.4:c.5995G>A