Allele Registry

Canonical Allele Identifier: PA658810543

Gene: COL6A1 HGNC NCBI

ClinVar Allele:

534512

ClinVar RCV:

RCV000653570

ClinVar Variation:

542988

HGVS (amino-acid)	Matching Registered Transcripts
NP_001839.2:p.Gly302Glu	CA410522282 NM_001848.3:c.905G>A