Canonical Allele Identifier: PA2580414116
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 2231767
ClinVar RCV Id: RCV002722931
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060250.2:p.Ser2016Asn
CA371324010
NM_017780.4:c.6047G>A