Canonical Allele Identifier: PA2830150742
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 166936

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Pro2706Leu
CA179921
NM_057167.4:c.8117C>T