Allele Registry

Canonical Allele Identifier: PA2830147945

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000357364

RCV000536787

RCV000726233

ClinVar Variation:

288872

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Ala1650Thr	CA2188088 NM_057166.5:c.4948G>A