Canonical Allele Identifier: PA2580197656
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 2185518
ClinVar RCV Id: RCV002632517
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001303619.1:p.Pro694Arg
CA371307830
NM_001316690.1:c.2081C>G