Canonical Allele Identifier: PA2829884828
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1400843
ClinVar RCV Id: RCV001896779

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060250.2:p.Ala2730Glu
CA4760963
NM_017780.4:c.8189C>A