Allele Registry

Canonical Allele Identifier: PA645451842

Gene: COL1A1 HGNC NCBI

ClinVar RCV:

RCV000490695

ClinVar Variation:

425638

HGVS (amino-acid)	Matching Registered Transcripts
NP_000079.2:p.Gly251Asp	CA400223989 NM_000088.4:c.752G>A