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: PA2830098434

Gene: COL2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2439350

ClinVar RCV Id: RCV003143619

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_149162.2:p.Gly1011Arg	CA384540190 NM_033150.3:c.3031G>C