Canonical Allele Identifier: PA2829884901
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1314653
ClinVar RCV Id: RCV001773162
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060250.2:p.Phe2775Leu
CA371308371
NM_017780.4:c.8323T>C
CA371308395
NM_017780.4:c.8325C>A
CA371308397
NM_017780.4:c.8325C>G