Allele Registry

Canonical Allele Identifier: PA916053640

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000396878

RCV001041627

ClinVar Variation:

284145

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Asp876Val	CA2188893 NM_057166.5:c.2627A>T