Allele Registry

Canonical Allele Identifier: PA645455098

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

413594

ClinVar RCV:

RCV000487720

RCV000821173

RCV001731716

ClinVar Variation:

425260

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Leu1223Pro	CA2189121 NM_004369.4:c.3668T>C