Canonical Allele Identifier: PA2829344800
Gene: COL2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2672268
ClinVar RCV Id: RCV003455896
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001835.3:p.Glu1060_Ala1063delinsAsp
CA2695199066
NM_001844.5:c.3180_3188del