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: PA2573270511

Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1478899

ClinVar RCV Id: RCV001974402

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_060250.2:p.Glu1789Asp	CA371321225 NM_017780.4:c.5367A>C CA371321226 NM_017780.4:c.5367A>T