Allele Registry

Canonical Allele Identifier: PA2830147796

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000329760

RCV000653528

ClinVar Variation:

284796

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Gly1458Arg	CA10604911 NM_057166.5:c.4372G>C