Allele Registry

Canonical Allele Identifier: PA645452060

Gene: COL1A1 HGNC NCBI

ClinVar Allele:

268765

ClinVar RCV:

RCV000725475

RCV001051624

RCV001807210

ClinVar Variation:

284528

HGVS (amino-acid)	Matching Registered Transcripts
NP_000079.2:p.Arg763His	CA8644877 NM_000088.4:c.2288G>A