Canonical Allele Identifier: PA2830150201
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 94965

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Ala2002Ser
CA222640
NM_057167.4:c.6004G>T