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: PA2573214831

Gene: COL18A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1512431

ClinVar RCV Id: RCV002018159

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001366429.1:p.Glu923Gly	CA321921211 NM_001379500.1:c.2768A>G