Allele Registry

Canonical Allele Identifier: PA2830154858

Gene: COL9A1 HGNC NCBI

ClinVar RCV:

RCV000439095

RCV001312199

ClinVar Variation:

392235

HGVS (amino-acid)	Matching Registered Transcripts
NP_511040.2:p.Pro363Ser	CA3882005 NM_078485.4:c.1087C>T