Allele Registry

Canonical Allele Identifier: PA200147

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000172850

RCV000272249

RCV000403938

RCV000653631

RCV001310783

ClinVar Variation:

192262

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Pro3082Arg	CA200145 NM_004369.4:c.9245C>G