Allele Registry

Canonical Allele Identifier: PA645452213

Gene: COL1A1 HGNC NCBI

ClinVar Allele:

376203

ClinVar RCV:

RCV000435717

RCV001865338

RCV004022348

ClinVar Variation:

381587

HGVS (amino-acid)	Matching Registered Transcripts
NP_000079.2:p.Arg1036Cys	CA8644558 NM_000088.4:c.3106C>T