Canonical Allele Identifier: PA1139707364
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 943592
ClinVar RCV Id: RCV001213811

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Pro2972Ser
CA351191054
NM_004369.4:c.8914C>T