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: PA891861561

Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 575473

ClinVar RCV Id: RCV002233646

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001265003.1:p.Leu43del	CA891842660 NM_001278074.1:c.126_128del