Canonical Allele Identifier: PA1139698750
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 970067
ClinVar RCV Id: RCV001245566 RCV002491827
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001303619.1:p.Gly703Arg
CA4760974
NM_001316690.1:c.2107G>A
CA371307956
NM_001316690.1:c.2107G>C