Allele Registry

Canonical Allele Identifier: PA2830148284

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000116801

RCV000515400

RCV000550052

RCV004549582

ClinVar Variation:

128822

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Ala2063Val	CA231053 NM_057166.5:c.6188C>T