Allele Registry

Canonical Allele Identifier: PA2826161640

Gene: COL11A1 HGNC NCBI

ClinVar RCV:

RCV001497975

RCV004037387

ClinVar Variation:

1155611

HGVS (amino-acid)	Matching Registered Transcripts
NP_001177638.1:p.Asp690Glu	CA974567 NM_001190709.2:c.2070T>A CA341170163 NM_001190709.2:c.2070T>G