Canonical Allele Identifier: PA2830152339
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 287938
ClinVar RCV Id: RCV000259742 RCV000348651 RCV000393023 RCV000873283 RCV001718584
JSON-LD

Amino-acid Alleles

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