Canonical Allele Identifier: PA645399636
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 421019
ClinVar RCV Id: RCV000479644 RCV003766686
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060250.2:p.Ser2199Asn
CA16618678
NM_017780.4:c.6596G>A