Allele Registry

Canonical Allele Identifier: PA2830121509

Gene: COL11A1 HGNC NCBI

ClinVar RCV:

RCV001497975

RCV004037387

ClinVar Variation:

1155611

HGVS (amino-acid)	Matching Registered Transcripts
NP_542197.3:p.Asp613Glu	CA974567 NM_080630.4:c.1839T>A CA341170163 NM_080630.4:c.1839T>G