Allele Registry

Canonical Allele Identifier: PA2828709054

Gene: COL9A1 HGNC NCBI

ClinVar RCV:

RCV000439095

RCV001312199

ClinVar Variation:

392235

HGVS (amino-acid)	Matching Registered Transcripts
NP_001364218.1:p.Pro373Ser	CA3882005 NM_001377289.1:c.1117C>T