Canonical Allele Identifier: PA1139725706
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 934343
ClinVar RCV Id: RCV001202710
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060250.2:p.Asp1993Glu
CA371323845
NM_017780.4:c.5979C>A
CA371323846
NM_017780.4:c.5979C>G