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: PA2828100127

Gene: CHD4 HGNC NCBI

Linked Data

ClinVar Variation Id: 266123

ClinVar RCV Id: RCV000257639

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350535.1:p.Val1595Ile	CA6411419 NM_001363606.2:c.4783G>A