Allele Registry

Canonical Allele Identifier: PA645452464

Gene: COL1A1 HGNC NCBI

ClinVar RCV:

RCV000490689

RCV003517203

ClinVar Variation:

425629

HGVS (amino-acid)	Matching Registered Transcripts
NP_000079.2:p.Thr1431Ile	CA400190590 NM_000088.4:c.4292C>T