Canonical Allele Identifier: PA2580414045
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 2129733
ClinVar RCV Id: RCV003050148
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060250.2:p.Trp1712Cys
CA371320511
NM_017780.4:c.5136G>C
CA371320513
NM_017780.4:c.5136G>T