Canonical Allele Identifier: PA2741964431
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 2725499
ClinVar RCV Id: RCV003499621

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060250.2:p.Ala2391Ser
CA371299730
NM_017780.4:c.7171G>T