Allele Registry

Canonical Allele Identifier: PA658810484

Gene: COL6A1 HGNC NCBI

ClinVar Allele:

534024

ClinVar RCV:

RCV000653593

RCV002534200

RCV003144455

ClinVar Variation:

543000

HGVS (amino-acid)	Matching Registered Transcripts
NP_001839.2:p.Lys185Arg	CA10069602 NM_001848.3:c.554A>G