Canonical Allele Identifier: PA2830149686
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 290521
ClinVar RCV Id: RCV000340601 RCV001403783
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Ser1406Leu
CA2188810
NM_057167.4:c.4217C>T