Allele Registry

Canonical Allele Identifier: PA2830148521

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000596369

RCV001234893

ClinVar Variation:

500213

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Ala2368Val	CA2187412 NM_057166.5:c.7103C>T