Canonical Allele Identifier: PA241707
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 195324
ClinVar RCV Id: RCV000175886

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060250.2:p.Ser91Asn
CA241705
NM_017780.4:c.272G>A