Allele Registry

Canonical Allele Identifier: PA645454659

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

269202

ClinVar RCV:

RCV000313136

RCV001139348

RCV001859611

ClinVar Variation:

284965

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Arg341His	CA2189721 NM_004369.4:c.1022G>A