Allele Registry

Canonical Allele Identifier: PA2830130278

Gene: COL11A2 HGNC NCBI

ClinVar Allele:

307201

ClinVar RCV:

RCV000264819

RCV000322375

RCV000323351

RCV000383939

RCV001850899

RCV002487566

ClinVar Variation:

356387

HGVS (amino-acid)	Matching Registered Transcripts
NP_542410.2:p.Glu1188Lys	CA3750325 NM_080679.3:c.3562G>A