Allele Registry

Canonical Allele Identifier: PA2830152339

Gene: COL6A2 HGNC NCBI

ClinVar Allele:

272175

ClinVar RCV:

RCV000259742

RCV000348651

RCV000393023

RCV000873283

RCV001718584

ClinVar Variation:

287938

HGVS (amino-acid)	Matching Registered Transcripts
NP_478054.2:p.Ala649Thr	CA10072340 NM_058174.3:c.1945G>A