Canonical Allele Identifier: PA2573270508
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1440213
ClinVar RCV Id: RCV001936825
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060250.2:p.Pro1776Arg
CA371321083
NM_017780.4:c.5327C>G