Allele Registry

Canonical Allele Identifier: PA231055

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000116801

RCV000515400

RCV000550052

RCV004549582

ClinVar Variation:

128822

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Ala2670Val	CA231053 NM_004369.4:c.8009C>T