Canonical Allele Identifier: PA916053752
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 285680
ClinVar RCV Id: RCV000329391 RCV001048907
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Gly797Glu
CA2189272
NM_057167.4:c.2390G>A