Canonical Allele Identifier: PA1139725388
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 976043
ClinVar RCV Id: RCV001253219
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060250.2:p.Asp1596Val
CA371319496
NM_017780.4:c.4787A>T