Allele Registry

Canonical Allele Identifier: PA645455502

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

272622

ClinVar RCV:

RCV000330793

RCV000735335

RCV000820442

ClinVar Variation:

288385

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Ala2787Thr	CA2187571 NM_004369.4:c.8359G>A