Canonical Allele Identifier: PA2826957973
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 572755
ClinVar RCV Id: RCV000694214

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001303619.1:p.Val553Leu
CA4759527
NM_001316690.1:c.1657G>T
CA371303824
NM_001316690.1:c.1657G>C