Allele Registry

Canonical Allele Identifier: PA098503

Gene: COL6A2 HGNC NCBI

ClinVar RCV:

RCV000149936

RCV000259316

RCV000370345

RCV000541944

RCV000990372

RCV002505139

RCV004532670

ClinVar Variation:

162538

HGVS (amino-acid)	Matching Registered Transcripts
NP_001840.3:p.Arg853Gln	CA295282 NM_001849.4:c.2558G>A