Allele Registry

Canonical Allele Identifier: PA645455492

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000356934

RCV003517177

ClinVar Variation:

288660

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Ala2714Ser	CA2187623 NM_004369.4:c.8140G>T