Allele Registry

Canonical Allele Identifier: PA2830150829

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

100914

ClinVar RCV:

RCV000081019

RCV000261014

RCV001516615

RCV001664375

RCV001664376

ClinVar Variation:

95014

HGVS (amino-acid)	Matching Registered Transcripts
NP_476508.2:p.Ala2806Pro	CA148086 NM_057167.4:c.8416G>C