Allele Registry

Canonical Allele Identifier: PA658810547

Gene: COL6A1 HGNC NCBI

ClinVar RCV:

RCV000593163

RCV001860178

ClinVar Variation:

499030

HGVS (amino-acid)	Matching Registered Transcripts
NP_001839.2:p.Gly314Glu	CA410522485 NM_001848.3:c.941G>A