Canonical Allele Identifier: PA2830151831
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 340362
ClinVar RCV Id: RCV000310823 RCV000393856 RCV001569668 RCV002523192
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478054.2:p.Thr207Arg
CA10071351
NM_058174.3:c.620C>G