Canonical Allele Identifier: PA2830149128
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 282127
ClinVar RCV Id: RCV000287686 RCV001301947 RCV003330620
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Phe636Ser
CA2189376
NM_057167.4:c.1907T>C