Allele Registry

Canonical Allele Identifier: PA658817417

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000598246

RCV000806334

RCV002531079

ClinVar Variation:

501196

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Ala184Thr	CA2189842 NM_004369.4:c.550G>A