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: PA2830035954

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_085059.2:p.Gly1099Arg	CA410499143 NM_030582.4:c.3295G>A CA410499144 NM_030582.4:c.3295G>C