Canonical Allele Identifier: PA2741964366
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 2912419
ClinVar RCV Id: RCV003603905

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060250.2:p.Asp1758Asn
CA371320889
NM_017780.4:c.5272G>A