Allele Registry

Canonical Allele Identifier: PA2829346517

Gene: COL11A1 HGNC NCBI

ClinVar Allele:

275714

ClinVar RCV:

RCV000275597

RCV000330638

RCV000494431

ClinVar Variation:

291535

HGVS (amino-acid)	Matching Registered Transcripts
NP_001845.3:p.Arg476His	CA974978 NM_001854.4:c.1427G>A