Canonical Allele Identifier: PA2830099056
Gene: COL2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 636734
ClinVar RCV Id: RCV000788646
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_149162.2:p.Asp1349Glu
CA384533524
NM_033150.3:c.4047C>G
CA384533525
NM_033150.3:c.4047C>A