Canonical Allele Identifier: PA2741964361
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 2836523
ClinVar RCV Id: RCV003604650
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060250.2:p.Gln1708His
CA371320465
NM_017780.4:c.5124G>C
CA371320466
NM_017780.4:c.5124G>T