Allele Registry

Canonical Allele Identifier: PA916053740

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000593811

RCV001141967

RCV003631139

ClinVar Variation:

501799

HGVS (amino-acid)	Matching Registered Transcripts
NP_476508.2:p.Arg74Leu	CA2189766 NM_057167.4:c.221G>T