Canonical Allele Identifier: PA295316
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 162551
ClinVar RCV Id: RCV000369192 RCV000725025 RCV000817834
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Arg2290Cys
CA295314
NM_004369.4:c.6868C>T