Canonical Allele Identifier: PA1139710209
Gene: COL2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 930229
ClinVar RCV Id: RCV001195744
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001835.3:p.Glu1230Asp
CA384536900
NM_001844.5:c.3690G>T
CA384536901
NM_001844.5:c.3690G>C