Canonical Allele Identifier: PA2830150105
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 573924
ClinVar RCV Id: RCV000695722
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Thr1875Ser
CA2188392
NM_057167.4:c.5623A>T
CA351216622
NM_057167.4:c.5624C>G