Allele Registry

Canonical Allele Identifier: PA2829347090

Gene: COL11A1 HGNC NCBI

ClinVar RCV:

RCV001497975

RCV004037387

ClinVar Variation:

1155611

HGVS (amino-acid)	Matching Registered Transcripts
NP_001845.3:p.Asp729Glu	CA974567 NM_001854.4:c.2187T>A CA341170163 NM_001854.4:c.2187T>G