Canonical Allele Identifier: PA2830150753
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1933176
ClinVar RCV Id: RCV002649596
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Pro2716Ser
CA351191655
NM_057167.4:c.8146C>T