Allele Registry

Canonical Allele Identifier: PA2830147840

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

273161

ClinVar RCV:

RCV000290353

RCV000653544

ClinVar Variation:

288924

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Arg1490Trp	CA2188357 NM_057166.5:c.4468C>T