Allele Registry

Canonical Allele Identifier: PA2830146367

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

269701

ClinVar RCV:

RCV000259898

RCV000274489

RCV000653619

RCV003165744

ClinVar Variation:

285464

HGVS (amino-acid)	Matching Registered Transcripts
NP_476506.3:p.Val863Met	CA2189216 NM_057165.5:c.2587G>A