Canonical Allele Identifier: PA2580414190
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1805558
ClinVar RCV Id: RCV002471976
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060250.2:p.Ser2213Cys
CA371326004
NM_017780.4:c.6638C>G