Allele Registry

Canonical Allele Identifier: PA257811

Gene: COL1A1 HGNC NCBI

ClinVar RCV:

RCV000018825

ClinVar Variation:

17284

HGVS (amino-acid)	Matching Registered Transcripts
NP_000079.2:p.Gly275Asp	CA257809 NM_000088.4:c.824G>A