Allele Registry

Canonical Allele Identifier: PA182106

Gene: COL11A2 HGNC NCBI

ClinVar RCV:

RCV000155065

RCV000271332

RCV000277747

RCV000326882

RCV000381519

RCV000427587

RCV000680464

RCV001804866

ClinVar Variation:

178321

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