Allele Registry

Canonical Allele Identifier: PA658668651

Gene: COL1A1 HGNC NCBI

ClinVar Allele:

445818

ClinVar RCV:

RCV000521607

RCV000547846

ClinVar Variation:

452610

HGVS (amino-acid)	Matching Registered Transcripts
NP_000079.2:p.Gly488Ser	CA400217541 NM_000088.4:c.1462G>A