Canonical Allele Identifier: PA2830150806
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 897652
ClinVar RCV Id: RCV001141062

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Thr2779Ser
CA351190895
NM_057167.4:c.8336C>G
CA351190900
NM_057167.4:c.8335A>T