Canonical Allele Identifier: PA2829884829
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1509946
ClinVar RCV Id: RCV002011399

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060250.2:p.Ala2730Thr
CA4760961
NM_017780.4:c.8188G>A