Canonical Allele Identifier: PA2573270380
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1344751
ClinVar RCV Id: RCV001849752 RCV002545278
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060250.2:p.Ser244Arg
CA4759366
NM_017780.4:c.732C>G
CA371299054
NM_017780.4:c.730A>C
CA371299068
NM_017780.4:c.732C>A