Canonical Allele Identifier: PA182106
Gene: COL11A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 178321
ClinVar RCV Id: RCV000155065 RCV000277747 RCV000271332 RCV000381519 RCV000427587 RCV000680464 RCV000326882 RCV001804866
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_542411.2:p.Arg1667His
CA182105
NM_080680.3:c.5000G>A