Canonical Allele Identifier: PA916021787
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_001303619.1:p.Thr689Met
CA4760968
NM_001316690.1:c.2066C>T