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: PA258263

Gene: COL4A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1804102

ClinVar RCV Id: RCV002468840

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000486.1:p.Gly180Arg	CA258262 NM_000495.4:c.538G>A CA413921103 NM_000495.4:c.538G>C