Canonical Allele Identifier: PA2580414115
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1994149
ClinVar RCV Id: RCV002806644

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060250.2:p.Ser2010Gly
CA177353948
NM_017780.4:c.6028A>G