Allele Registry

Canonical Allele Identifier: PA645453804

Gene: COL1A2 HGNC NCBI

ClinVar Allele:

407275

ClinVar RCV:

RCV000478737

RCV001260277

RCV004545772

ClinVar Variation:

419709

HGVS (amino-acid)	Matching Registered Transcripts
NP_000080.2:p.Gly247Cys	CA16618573 NM_000089.4:c.739G>T