Allele Registry

Canonical Allele Identifier: PA245551

Gene: COL1A1 HGNC NCBI

ClinVar Allele:

194586

ClinVar RCV:

RCV000178451

RCV003631093

ClinVar Variation:

197425

HGVS (amino-acid)	Matching Registered Transcripts
NP_000079.2:p.Pro1009Ser	CA245549 NM_000088.4:c.3025C>T