Allele Registry

Canonical Allele Identifier: PA2830148468

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

272741

ClinVar RCV:

RCV000707162

RCV000726172

ClinVar Variation:

288504

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Ala2308Val	CA2187451 NM_057166.5:c.6923C>T