Canonical Allele Identifier: PA916056522
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 660109
ClinVar RCV Id: RCV000817239 RCV003892750 RCV003166366
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060250.2:p.His541Arg
CA371303732
NM_017780.4:c.1622A>G