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: PA2830167866

Gene: COL18A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1034560

ClinVar RCV Id: RCV001337301

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_569711.2:p.Pro1356Leu	CA321921216 NM_130444.2:c.4067C>T