Allele Registry

Canonical Allele Identifier: PA148023

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

100884

ClinVar RCV:

RCV000080989

RCV000369989

RCV000534612

RCV001707522

RCV002514421

ClinVar Variation:

94984

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Ile244Val	CA148021 NM_004369.4:c.730A>G