Allele Registry

Canonical Allele Identifier: PA2828709597

Gene: COL9A1 HGNC NCBI

ClinVar RCV:

RCV000251679

RCV000710922

ClinVar Variation:

258358

HGVS (amino-acid)	Matching Registered Transcripts
NP_001364219.1:p.Met475Val	CA3881803 NM_001377290.1:c.1423A>G