Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA645399500

Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 420036

ClinVar RCV Id: RCV000480035 RCV001064858

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_060250.2:p.Arg2065Gly	CA16618675 NM_017780.4:c.6193C>G