Allele Registry

Canonical Allele Identifier: PA2830145745

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

266682

ClinVar RCV:

RCV000303951

RCV000380084

RCV000543340

RCV002295295

RCV002494822

ClinVar Variation:

282445

HGVS (amino-acid)	Matching Registered Transcripts
NP_476506.3:p.Ala114Thr	CA2189740 NM_057165.5:c.340G>A