Canonical Allele Identifier: PA2580197650
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 2430712
ClinVar RCV Id: RCV003129245
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001303619.1:p.Ala684Asp
CA371307669
NM_001316690.1:c.2051C>A