Canonical Allele Identifier: PA916056714
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 654752
ClinVar RCV Id: RCV000810769 RCV002487761 RCV004028705 RCV003396416
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060250.2:p.His1016Arg
CA4759881
NM_017780.4:c.3047A>G