Canonical Allele Identifier: PA2499283723
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1002235
ClinVar RCV Id: RCV001298631
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060250.2:p.Gln1002Leu
CA371309189
NM_017780.4:c.3005A>T