Canonical Allele Identifier: PA645412109
Gene: COL11A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 291544
ClinVar RCV Id: RCV000287951 RCV000403940 RCV001660560 RCV002278329 RCV004525918
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_542196.2:p.Tyr233Cys
CA975345
NM_080629.3:c.698A>G