Canonical Allele Identifier: PA2580197649
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 2198967
ClinVar RCV Id: RCV002634020

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001303619.1:p.Ala682Thr
CA371307638
NM_001316690.1:c.2044G>A