Allele Registry

Canonical Allele Identifier: PA094181

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

32193

ClinVar RCV:

RCV003764592

ClinVar Variation:

17154

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Leu1726Arg	CA257718 NM_004369.4:c.5177T>G