Canonical Allele Identifier: PA2741964392
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 2893311
ClinVar RCV Id: RCV003603019 RCV004374087
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060250.2:p.Ala2001Thr
CA371323899
NM_017780.4:c.6001G>A