Canonical Allele Identifier: PA891856992
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 573924
ClinVar RCV Id: RCV000695722
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Thr2081Ser
CA2188392
NM_004369.4:c.6241A>T
CA351216622
NM_004369.4:c.6242C>G