Canonical Allele Identifier: PA101742
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 158317
ClinVar RCV Id: RCV000145693 RCV000203938 RCV000677330 RCV002312634 RCV002498662 RCV001528239 RCV001849320 RCV003891676
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060250.2:p.Met2527Leu
CA333506
NM_017780.4:c.7579A>C
CA371302753
NM_017780.4:c.7579A>T