Allele Registry

Canonical Allele Identifier: PA095133

Gene: COL27A1 HGNC NCBI

ClinVar RCV:

RCV000132771

RCV000337500

ClinVar Variation:

143245

HGVS (amino-acid)	Matching Registered Transcripts
NP_116277.2:p.Gly697Arg	CA333291 NM_032888.4:c.2089G>C CA374599245 NM_032888.4:c.2089G>A