Canonical Allele Identifier: PA2830152041
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 542974
ClinVar RCV Id: RCV000653532 RCV001584511
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478054.2:p.Arg380Cys
CA10071717
NM_058174.3:c.1138C>T