Canonical Allele Identifier: PA2830145004
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 335139
ClinVar RCV Id: RCV000346069 RCV001239780 RCV004021805 RCV003137962
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476505.3:p.Thr118Met
CA2189591
NM_057164.5:c.353C>T