Canonical Allele Identifier: PA2499283800
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1054188
ClinVar RCV Id: RCV001362648 RCV002499734
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060250.2:p.Pro2560Ser
CA4760862
NM_017780.4:c.7678C>T