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: PA258531

Gene: COL4A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1391700

ClinVar RCV Id: RCV001893215

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_203699.1:p.Gly579Arg	CA258530 NM_033380.3:c.1735G>A CA413845495 NM_033380.3:c.1735G>C