Allele Registry

Canonical Allele Identifier: PA2826162406

Gene: COL11A1 HGNC NCBI

ClinVar RCV:

RCV000179660

RCV000271060

RCV000357636

RCV000680455

RCV001262338

RCV004539684

ClinVar Variation:

198360

HGVS (amino-acid)	Matching Registered Transcripts
NP_001177638.1:p.Arg1694His	CA246966 NM_001190709.2:c.5081G>A