Allele Registry

Canonical Allele Identifier: PA127153

Gene: COL1A1 HGNC NCBI

ClinVar RCV:

RCV000018891

RCV004018642

ClinVar Variation:

17348

HGVS (amino-acid)	Matching Registered Transcripts
NP_000079.2:p.Gly191Asp	CA127151 NM_000088.4:c.572G>A