Allele Registry

Canonical Allele Identifier: PA916057775

Gene: COL11A2 HGNC NCBI

ClinVar RCV:

RCV000215858

RCV000262918

RCV000278458

RCV000357558

RCV000372958

RCV002517538

ClinVar Variation:

228526

HGVS (amino-acid)	Matching Registered Transcripts
NP_542412.2:p.Gln251Leu	CA3751587 NM_080681.3:c.752A>T