Allele Registry

Canonical Allele Identifier: PA2580104799

Gene: COL1A2 HGNC NCBI

ClinVar RCV:

RCV002654952

ClinVar Variation:

2201327

HGVS (amino-acid)	Matching Registered Transcripts
NP_000080.2:p.Glu1201Lys	CA4347796 NM_000089.4:c.3601G>A