Allele Registry

Canonical Allele Identifier: PA658668733

Gene: COL1A1 HGNC NCBI

ClinVar RCV:

RCV000521165

RCV000765368

RCV000792484

RCV002329239

ClinVar Variation:

450185

HGVS (amino-acid)	Matching Registered Transcripts
NP_000079.2:p.Arg1399His	CA8644235 NM_000088.4:c.4196G>A