Canonical Allele Identifier: PA2830130176
Gene: COL11A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 907893
ClinVar RCV Id: RCV001158059 RCV001158061 RCV001158060 RCV001346855 RCV001375154
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_542410.2:p.Arg1129Cys
CA3750390
NM_080679.3:c.3385C>T