Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
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Canonical Allele Identifier: PA2580413588

Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 2429360

ClinVar RCV Id: RCV003126300

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_060250.2:p.His541Gln	CA371303736 NM_017780.4:c.1623C>A CA371303738 NM_017780.4:c.1623C>G