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: PA2830035955

Gene: COL18A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2196395

ClinVar RCV Id: RCV002633638

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_085059.2:p.Gly1099Ala	CA410499147 NM_030582.4:c.3296G>C