Canonical Allele Identifier: PA1139707367
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 897652
ClinVar RCV Id: RCV001141062

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Thr2985Ser
CA351190895
NM_004369.4:c.8954C>G
CA351190900
NM_004369.4:c.8953A>T