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: PA101613

Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 2022

ClinVar RCV Id: RCV000002100 RCV000081828 RCV000763598 RCV002287316

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_060250.2:p.Ile1028Val	CA223285 NM_017780.4:c.3082A>G