Allele Registry

Canonical Allele Identifier: PA205354

Gene: COL6A1 HGNC NCBI

ClinVar RCV:

RCV000192499

RCV001069846

ClinVar Variation:

210746

HGVS (amino-acid)	Matching Registered Transcripts
NP_001839.2:p.Arg858His	CA205352 NM_001848.3:c.2573G>A