Allele Registry

Canonical Allele Identifier: PA2830147978

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

172208

ClinVar RCV:

RCV000311114

ClinVar Variation:

162552

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Gly1684Trp	CA295317 NM_057166.5:c.5050G>T