Allele Registry

Canonical Allele Identifier: PA260269

Gene: COL1A1 HGNC NCBI

Linked Data - NCBI & NCI

ClinVar Allele:

44561

ClinVar RCV:

RCV000029552

RCV000262664

RCV000320157

RCV000367913

RCV000521409

RCV000560142

RCV000599940

RCV002276573

RCV002399337

ClinVar Variation:

35897

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000079.2:p.Ala348Thr	CA260267 NM_000088.4:c.1042G>A