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: PA2826957865

Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 2833012

ClinVar RCV Id: RCV003604493

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001303619.1:p.Ser357Asn	CA371301116 NM_001316690.1:c.1070G>A