Allele Registry

Canonical Allele Identifier: PA221782

Gene: COL6A1 HGNC NCBI

ClinVar Allele:

99765

ClinVar RCV:

RCV000252293

RCV000271407

RCV000531637

RCV000997844

ClinVar Variation:

93863

HGVS (amino-acid)	Matching Registered Transcripts
NP_001839.2:p.Thr881Met	CA221780 NM_001848.3:c.2642C>T