Allele Registry

Canonical Allele Identifier: PA645400884

Gene: COL6A1 HGNC NCBI

ClinVar RCV:

RCV000404469

RCV002518923

ClinVar Variation:

284383

HGVS (amino-acid)	Matching Registered Transcripts
NP_001839.2:p.Gly269Arg	CA10604778 NM_001848.3:c.805G>A CA410521344 NM_001848.3:c.805G>C