Allele Registry

Canonical Allele Identifier: PA1139692435

Gene: COL1A2 HGNC NCBI

ClinVar RCV:

RCV002240628

RCV003442196

ClinVar Variation:

862080

HGVS (amino-acid)	Matching Registered Transcripts
NP_000080.2:p.Pro549Ser	CA4347146 NM_000089.4:c.1645C>T