Canonical Allele Identifier: PA645398429
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 363445

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060250.2:p.Val344Ile
CA4759417
NM_017780.4:c.1030G>A