Allele Registry

Canonical Allele Identifier: PA2830145764

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

269202

ClinVar RCV:

RCV000313136

RCV001139348

RCV001859611

ClinVar Variation:

284965

HGVS (amino-acid)	Matching Registered Transcripts
NP_476506.3:p.Arg135His	CA2189721 NM_057165.5:c.404G>A