Allele Registry

Canonical Allele Identifier: PA127141

Gene: COL1A1 HGNC NCBI

ClinVar RCV:

RCV000018861

RCV001385346

ClinVar Variation:

17320

HGVS (amino-acid)	Matching Registered Transcripts
NP_000079.2:p.Gly221Cys	CA127139 NM_000088.4:c.661G>T