Canonical Allele Identifier: PA2830122458
Gene: COL11A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 197964
ClinVar RCV Id: RCV000352679 RCV000399033 RCV000724456 RCV002516788 RCV004537480
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_542197.3:p.Ala1237Thr
CA246381
NM_080630.4:c.3709G>A