Canonical Allele Identifier: PA1139725908
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 968915
ClinVar RCV Id: RCV001244156
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060250.2:p.Cys2207Arg
CA371325950
NM_017780.4:c.6619T>C