Allele Registry

Canonical Allele Identifier: PA2830146366

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

268358

ClinVar RCV:

RCV000390311

RCV000692494

RCV001329868

RCV004021151

ClinVar Variation:

284121

HGVS (amino-acid)	Matching Registered Transcripts
NP_476506.3:p.Val861Met	CA2189218 NM_057165.5:c.2581G>A