Canonical Allele Identifier: PA148849
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 95776
ClinVar RCV Id: RCV000081821 RCV000266990 RCV000233607 RCV000514792 RCV002313798
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060250.2:p.Ala685_Lys686dup
CA148847
NM_017780.4:c.2053_2058dup
CA2717412540
NM_017780.4:c.2058_2059insGCAAAG