Canonical Allele Identifier: PA2830149495
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 199091
ClinVar RCV Id: RCV000249892 RCV000653662 RCV001711471 RCV002516823
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Thr1200Met
CA248093
NM_057167.4:c.3599C>T