Canonical Allele Identifier: PA2829884852
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 2185518
ClinVar RCV Id: RCV002632517

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060250.2:p.Pro2743Arg
CA371307830
NM_017780.4:c.8228C>G