Allele Registry

Canonical Allele Identifier: PA645451820

Gene: COL1A1 HGNC NCBI

ClinVar RCV:

RCV000346609

RCV000686753

RCV002278310

RCV002379141

RCV004549603

ClinVar Variation:

287981

HGVS (amino-acid)	Matching Registered Transcripts
NP_000079.2:p.Pro247Leu	CA8645573 NM_000088.4:c.740C>T