Canonical Allele Identifier: PA2830149883
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 498581

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Phe1646Ser
CA2188631
NM_057167.4:c.4937T>C