Allele Registry

Canonical Allele Identifier: PA2830145715

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

493223

ClinVar RCV:

RCV000593811

RCV001141967

RCV003631139

ClinVar Variation:

501799

HGVS (amino-acid)	Matching Registered Transcripts
NP_476506.3:p.Arg74Leu	CA2189766 NM_057165.5:c.221G>T