Canonical Allele Identifier: PA2741964413
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 2777076
ClinVar RCV Id: RCV003603190

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060250.2:p.Gln2205His
CA177354178
NM_017780.4:c.6615G>C
CA371325936
NM_017780.4:c.6615G>T