Canonical Allele Identifier: PA645399790
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 363481
ClinVar RCV Id: RCV000321538 RCV000502071 RCV001591034 RCV001861326
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060250.2:p.Thr2738Met
CA4760968
NM_017780.4:c.8213C>T