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: PA095750

Gene: COL4A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1804616

ClinVar RCV Id: RCV002469917

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000486.1:p.Gly177Cys	CA258257 NM_000495.4:c.529G>T