Canonical Allele Identifier: PA1139725857
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 856430
ClinVar RCV Id: RCV001061892

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060250.2:p.Asp2126Tyr
CA371324959
NM_017780.4:c.6376G>T