Allele Registry

Canonical Allele Identifier: PA098440

Gene: COL6A1 HGNC NCBI

ClinVar RCV:

RCV000018713

RCV000177135

ClinVar Variation:

17173

HGVS (amino-acid)	Matching Registered Transcripts
NP_001839.2:p.Lys121Arg	CA221786 NM_001848.3:c.362A>G