Canonical Allele Identifier: PA645399450
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 281606
ClinVar RCV Id: RCV000351337 RCV001055305 RCV002356366 RCV002487186
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060250.2:p.Arg1943Gln
CA4760470
NM_017780.4:c.5828G>A