Allele Registry

Canonical Allele Identifier: PA658804230

Gene: COL1A1 HGNC NCBI

ClinVar Allele:

531253

ClinVar RCV:

RCV000631492

ClinVar Variation:

526864

HGVS (amino-acid)	Matching Registered Transcripts
NP_000079.2:p.Gly371Ser	CA291546874 NM_000088.4:c.1111G>A