Allele Registry

Canonical Allele Identifier: PA245662

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

194644

ClinVar RCV:

RCV000178531

RCV000818011

ClinVar Variation:

197483

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Ala3163Thr	CA245660 NM_004369.4:c.9487G>A