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: PA2573270510

Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1678266

ClinVar RCV Id: RCV002224857

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_060250.2:p.Trp1786Arg	CA371321179 NM_017780.4:c.5356T>A CA371321180 NM_017780.4:c.5356T>C