Allele Registry

Canonical Allele Identifier: PA645455111

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

286083

ClinVar RCV:

RCV000349597

RCV002523124

RCV003144224

ClinVar Variation:

335124

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Ala1288Thr	CA2189057 NM_004369.4:c.3862G>A