Canonical Allele Identifier: PA645455044
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 290167
ClinVar RCV Id: RCV000378139 RCV001329867
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Arg768His
CA2189433
NM_004369.4:c.2303G>A