Canonical Allele Identifier: PA2573085566
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1308767
ClinVar RCV Id: RCV001754655

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Pro2982Leu
CA351190927
NM_004369.4:c.8945C>T