Allele Registry

Canonical Allele Identifier: PA147382

Gene: COL6A1 HGNC NCBI

ClinVar RCV:

RCV000079798

RCV000305303

RCV000576724

RCV001521148

RCV001664293

ClinVar Variation:

93861

HGVS (amino-acid)	Matching Registered Transcripts
NP_001839.2:p.Arg850His	CA147380 NM_001848.3:c.2549G>A