Canonical Allele Identifier: PA2573270402
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1377379
ClinVar RCV Id: RCV001888482
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060250.2:p.Thr513Ala
CA177313604
NM_017780.4:c.1537A>G