Allele Registry

Canonical Allele Identifier: PA645451916

Gene: COL1A1 HGNC NCBI

ClinVar RCV:

RCV000434641

RCV000540512

RCV000766720

RCV001125756

RCV001125757

RCV001127851

RCV002279198

ClinVar Variation:

387527

HGVS (amino-acid)	Matching Registered Transcripts
NP_000079.2:p.Pro417Ser	CA8645334 NM_000088.4:c.1249C>T