Allele Registry

Canonical Allele Identifier: PA2830121143

Gene: COL11A1 HGNC NCBI

ClinVar Allele:

275714

ClinVar RCV:

RCV000275597

RCV000330638

RCV000494431

ClinVar Variation:

291535

HGVS (amino-acid)	Matching Registered Transcripts
NP_542197.3:p.Arg360His	CA974978 NM_080630.4:c.1079G>A