Allele Registry

Canonical Allele Identifier: PA658670896

Gene: COL12A1 HGNC NCBI

ClinVar Allele:

443994

ClinVar RCV:

RCV000518879

RCV000802768

RCV002527638

ClinVar Variation:

452138

HGVS (amino-acid)	Matching Registered Transcripts
NP_004361.3:p.Arg1128Lys	CA3893741 NM_004370.6:c.3383G>A