Canonical Allele Identifier: PA1139725482
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 943997
ClinVar RCV Id: RCV001214302
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060250.2:p.Asp1755His
CA371320870
NM_017780.4:c.5263G>C