Canonical Allele Identifier: PA2573198215
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1409097
ClinVar RCV Id: RCV001913464 RCV003401870 RCV003334058 RCV004042827
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001303619.1:p.Ala684Thr
CA4760967
NM_001316690.1:c.2050G>A