Canonical Allele Identifier: PA916053579
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_476505.3:p.Thr999Met
CA248093
NM_057164.5:c.2996C>T