Canonical Allele Identifier: PA2830148472
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_476507.3:p.Pro2315Ser
CA351191655
NM_057166.5:c.6943C>T