Allele Registry

Canonical Allele Identifier: PA645452212

Gene: COL1A1 HGNC NCBI

ClinVar RCV:

RCV000497329

RCV000631498

RCV002279279

ClinVar Variation:

432245

HGVS (amino-acid)	Matching Registered Transcripts
NP_000079.2:p.Ala1032Thr	CA8644580 NM_000088.4:c.3094G>A