Canonical Allele Identifier: PA334403
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 188237
ClinVar RCV Id: RCV000168185 RCV002498835
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060250.2:p.Asn2393Lys
CA334401
NM_017780.4:c.7179C>A
CA371299777
NM_017780.4:c.7179C>G