Canonical Allele Identifier: PA658663210
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 459558
ClinVar RCV Id: RCV000525041 RCV001683558 RCV004023815 RCV003935409
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060250.2:p.Arg2027Gln
CA4760512
NM_017780.4:c.6080G>A