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: PA250683

Gene: COL2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 17377

ClinVar RCV Id: RCV000380315 RCV002509164

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_149162.2:p.Gly435Cys	CA250682 NM_033150.3:c.1303G>T CA1139771037 NM_033150.3:c.1302_1303delinsTT