Canonical Allele Identifier: PA645433531
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 290609
ClinVar RCV Id: RCV000278481 RCV000699042 RCV001139200 RCV003343746
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Thr828Met
CA10072902
NM_001849.4:c.2483C>T