Canonical Allele Identifier: PA645455554
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 282891
ClinVar RCV Id: RCV000375535 RCV000280523 RCV000443634 RCV004547673 RCV001089085
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Met3175Thr
CA2187232
NM_004369.4:c.9524T>C