Canonical Allele Identifier: PA2573270463
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1508955
ClinVar RCV Id: RCV002016485 RCV002243508 RCV002486676
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060250.2:p.Ala2211Asp
CA371325992
NM_017780.4:c.6632C>A