Canonical Allele Identifier: PA2829884864
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 970067
ClinVar RCV Id: RCV001245566 RCV002491827
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060250.2:p.Gly2752Arg
CA4760974
NM_017780.4:c.8254G>A
CA371307956
NM_017780.4:c.8254G>C