Allele Registry

Canonical Allele Identifier: PA244784

Gene: COL6A1 HGNC NCBI

ClinVar RCV:

RCV000177841

RCV001338749

ClinVar Variation:

196950

HGVS (amino-acid)	Matching Registered Transcripts
NP_001839.2:p.Arg964Gln	CA244782 NM_001848.3:c.2891G>A