Canonical Allele Identifier: PA916021792
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 218746
ClinVar RCV Id: RCV000202970 RCV000782187 RCV001853271 RCV002433898
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001303619.1:p.Gly737Arg
CA249169
NM_001316690.1:c.2209G>A
CA371308638
NM_001316690.1:c.2209G>C