Canonical Allele Identifier: PA2580414121
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1700917
ClinVar RCV Id: RCV002275429
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060250.2:p.Leu2039Arg
CA371324242
NM_017780.4:c.6116T>G