Allele Registry

Canonical Allele Identifier: PA2828709495

Gene: COL9A1 HGNC NCBI

ClinVar RCV:

RCV000344967

RCV000764653

RCV002518868

ClinVar Variation:

282983

HGVS (amino-acid)	Matching Registered Transcripts
NP_001364219.1:p.Arg302His	CA3882097 NM_001377290.1:c.905G>A