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: PA2830099021

Gene: COL2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 17389

ClinVar RCV Id: RCV000018931 RCV000022482 RCV001377068

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_149162.2:p.Tyr1322Cys	CA127170 NM_033150.3:c.3965A>G