Allele Registry

Canonical Allele Identifier: PA645454640

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000300486

RCV000311736

RCV000725577

RCV000820873

ClinVar Variation:

285050

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Ala259Val	CA2189778 NM_004369.4:c.776C>T