Canonical Allele Identifier: PA2829884907
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 653124
ClinVar RCV Id: RCV000808832
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060250.2:p.Gly2778Arg
CA371308453
NM_017780.4:c.8332G>A
CA371308457
NM_017780.4:c.8332G>C