Canonical Allele Identifier: PA916056842
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 811091
ClinVar RCV Id: RCV001000714
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060250.2:p.Val1552Phe
CA371318921
NM_017780.4:c.4654G>T