Allele Registry

Canonical Allele Identifier: PA2830145916

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

288455

ClinVar RCV:

RCV000404863

RCV000730387

RCV001087014

ClinVar Variation:

335140

HGVS (amino-acid)	Matching Registered Transcripts
NP_476506.3:p.Ser315Leu	CA2189596 NM_057165.5:c.944C>T