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: PA101598

Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 158309

ClinVar RCV Id: RCV000145684

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_060250.2:p.His2096Arg	CA271328 NM_017780.4:c.6287A>G