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: PA2573214830

Gene: COL18A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1426974

ClinVar RCV Id: RCV001949865

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001366429.1:p.Gly919Arg	CA410499143 NM_001379500.1:c.2755G>A CA410499144 NM_001379500.1:c.2755G>C