Allele Registry

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Canonical Allele Identifier: PA916056508

Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 662105

ClinVar RCV Id: RCV000819673

ClinVar Variation Id: 1022947

ClinVar RCV Id: RCV001322918 RCV001558538 RCV004035086

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_060250.2:p.Gln518His	CA4759511 NM_017780.4:c.1554G>T CA4759512 NM_017780.4:c.1554G>C