Canonical Allele Identifier: PA658817038
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 529141
ClinVar RCV Id: RCV000634442 RCV000729031 RCV001849422 RCV002317386 RCV002499049
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060250.2:p.Arg1942Trp
CA4760468
NM_017780.4:c.5824C>T