Canonical Allele Identifier: PA2830152384
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2742418
ClinVar RCV Id: RCV003516741

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478054.2:p.Arg680Cys
CA10072422
NM_058174.3:c.2038C>T