Canonical Allele Identifier: PA138635
Gene: COL11A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 46568
ClinVar RCV Id: RCV000039838 RCV000299712 RCV000406227 RCV000348811 RCV000354095 RCV001512133 RCV002277131
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_542411.2:p.Pro1722Leu
CA138634
NM_080680.3:c.5165C>T