Canonical Allele Identifier: PA891854241
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 573550
ClinVar RCV Id: RCV000695249 RCV000766025
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060250.2:p.Arg2568Trp
CA4760867
NM_017780.4:c.7702C>T