Canonical Allele Identifier: PA2741964370
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 2807324
ClinVar RCV Id: RCV003604117
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060250.2:p.Val1798Ala
CA371321316
NM_017780.4:c.5393T>C