Allele Registry

Canonical Allele Identifier: PA658810622

Gene: COL6A1 HGNC NCBI

ClinVar RCV:

RCV000626107

RCV003226340

ClinVar Variation:

522912

HGVS (amino-acid)	Matching Registered Transcripts
NP_001839.2:p.Glu649Lys	CA10070661 NM_001848.3:c.1945G>A