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: PA2741964399

Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 2955442

ClinVar RCV Id: RCV003818617

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_060250.2:p.Val2102Gly	CA177354076 NM_017780.4:c.6305T>G