Canonical Allele Identifier: PA916021791
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 653124
ClinVar RCV Id: RCV000808832
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001303619.1:p.Gly729Arg
CA371308453
NM_001316690.1:c.2185G>A
CA371308457
NM_001316690.1:c.2185G>C