Canonical Allele Identifier: PA2573093236
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1306107
ClinVar RCV Id: RCV001767060
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060250.2:p.Ala1999Pro
CA371323886
NM_017780.4:c.5995G>C