Allele Registry

Canonical Allele Identifier: PA658804236

Gene: COL1A1 HGNC NCBI

ClinVar RCV:

RCV000597522

RCV001860172

ClinVar Variation:

498521

HGVS (amino-acid)	Matching Registered Transcripts
NP_000079.2:p.Thr541Ala	CA8645171 NM_000088.4:c.1621A>G