Canonical Allele Identifier: PA645455465
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 289363
ClinVar RCV Id: RCV000321712

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Val2494Leu
CA10606424
NM_004369.4:c.7480G>T
CA351202707
NM_004369.4:c.7480G>C