Allele Registry

Canonical Allele Identifier: PA645452421

Gene: COL1A1 HGNC NCBI

ClinVar RCV:

RCV000490719

ClinVar Variation:

425625

HGVS (amino-acid)	Matching Registered Transcripts
NP_000079.2:p.Met1264Val	CA291542868 NM_000088.4:c.3790A>G