Canonical Allele Identifier: PA2573198212
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1509946
ClinVar RCV Id: RCV002011399

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001303619.1:p.Ala681Thr
CA4760961
NM_001316690.1:c.2041G>A