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: PA2829344921

Gene: COL2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2865973

ClinVar RCV Id: RCV003704964

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001835.3:p.Leu1487_Ter1488insSerLysProGluProArgAsnAsnThrIleArgCysLysProLysGlyProLysTyrPheProIleSerValThrLeuGlyLeuCysThrGluTrpLeuThr	CA384533064 NM_001844.5:c.4463A>C