Canonical Allele Identifier: PA2573198213
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1400843
ClinVar RCV Id: RCV001896779

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001303619.1:p.Ala681Glu
CA4760963
NM_001316690.1:c.2042C>A