Canonical Allele Identifier: PA916057093
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 639757
ClinVar RCV Id: RCV000792649
ClinVar Variation Id: 1184315
ClinVar RCV Id: RCV001542311
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060250.2:p.Gly2200Arg
CA177354170
NM_017780.4:c.6598G>A
CA371325871
NM_017780.4:c.6598G>C