Canonical Allele Identifier: PA891854092
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 588393
ClinVar RCV Id: RCV001849432 RCV001862029 RCV002314484 RCV002477657
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060250.2:p.Asp728His
CA4759629
NM_017780.4:c.2182G>C