Allele Registry

Canonical Allele Identifier: PA2830148548

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000081019

RCV000261014

RCV001516615

RCV001664375

RCV001664376

ClinVar Variation:

95014

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Ala2405Pro	CA148086 NM_057166.5:c.7213G>C