Canonical Allele Identifier: PA1139725784
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 984619
ClinVar RCV Id: RCV001264718

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060250.2:p.Arg2024Gly
CA371324070
NM_017780.4:c.6070C>G