Allele Registry

Canonical Allele Identifier: PA658804231

Gene: COL1A1 HGNC NCBI

ClinVar Allele:

531251

ClinVar RCV:

RCV000631503

RCV001584459

RCV004547778

ClinVar Variation:

526872

HGVS (amino-acid)	Matching Registered Transcripts
NP_000079.2:p.Pro378Ala	CA8645389 NM_000088.4:c.1132C>G