Allele Registry

Canonical Allele Identifier: PA2499295829

Gene: COL11A1 HGNC NCBI

ClinVar RCV:

RCV001497975

RCV004037387

ClinVar Variation:

1155611

HGVS (amino-acid)	Matching Registered Transcripts
NP_542196.2:p.Asp741Glu	CA974567 NM_080629.3:c.2223T>A CA341170163 NM_080629.3:c.2223T>G