Canonical Allele Identifier: PA1139725782
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 863181
ClinVar RCV Id: RCV002466620 RCV001070088
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060250.2:p.Glu2012Lys
CA177353952
NM_017780.4:c.6034G>A