Canonical Allele Identifier: PA2826957935
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 2169823
ClinVar RCV Id: RCV003085029
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001303619.1:p.Pro515Ala
CA371303385
NM_001316690.1:c.1543C>G