Canonical Allele Identifier: PA2499283794
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1012094
ClinVar RCV Id: RCV001309993 RCV004034227
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060250.2:p.Pro2120Ala
CA4760577
NM_017780.4:c.6358C>G