Canonical Allele Identifier: PA913197799
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 593135
ClinVar RCV Id: RCV000728091 RCV001062397 RCV002533082
ClinVar Variation Id: 1313983
ClinVar RCV Id: RCV001771214
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060250.2:p.Gly623Arg
CA4759579
NM_017780.4:c.1867G>C
CA371312612
NM_017780.4:c.1867G>A