Canonical Allele Identifier: PA2580414174
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 2127233
ClinVar RCV Id: RCV003047686

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060250.2:p.Gly2189Ser
CA371325744
NM_017780.4:c.6565G>A