Canonical Allele Identifier: PA094181
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 17154
ClinVar RCV Id: RCV003764592
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Leu1726Arg
CA257718
NM_004369.4:c.5177T>G