Canonical Allele Identifier: PA658677036
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 476549
ClinVar RCV Id: RCV000549430
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Gly2285Arg
CA351209192
NM_004369.4:c.6853G>C
CA351209193
NM_004369.4:c.6853G>A