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: PA2741964299

Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 2849199

ClinVar RCV Id: RCV003604878

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_060250.2:p.Val1021Leu	CA371309629 NM_017780.4:c.3061G>T CA371309632 NM_017780.4:c.3061G>C