Canonical Allele Identifier: PA1139725570
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 908830
ClinVar RCV Id: RCV001159524
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060250.2:p.Pro1782Leu
CA177352607
NM_017780.4:c.5345C>T