Canonical Allele Identifier: PA2499283767
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1040333
ClinVar RCV Id: RCV001343947

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060250.2:p.Ser612Asn
CA371312330
NM_017780.4:c.1835G>A