Canonical Allele Identifier: PA2580306615
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2061101
ClinVar RCV Id: RCV002942465

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Lys2532Arg
CA351201896
NM_004369.4:c.7595A>G