Canonical Allele Identifier: PA2830150006
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 285696
ClinVar RCV Id: RCV000291553 RCV000301747 RCV000449495 RCV000538324 RCV003430820 RCV004547703
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Arg1784Trp
CA2188511
NM_057167.4:c.5350C>T