Allele Registry

Canonical Allele Identifier: PA2830145763

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000591218

RCV003631135

ClinVar Variation:

499670

HGVS (amino-acid)	Matching Registered Transcripts
NP_476506.3:p.Arg135Leu	CA351222413 NM_057165.5:c.404G>T