Allele Registry

Canonical Allele Identifier: PA2830148592

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000081023

RCV000365788

RCV001516614

RCV001664377

RCV001664378

ClinVar Variation:

95018

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Thr2462Ile	CA148098 NM_057166.5:c.7385C>T