Canonical Allele Identifier: PA2830148524
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1308767
ClinVar RCV Id: RCV001754655

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Pro2375Leu
CA351190927
NM_057166.5:c.7124C>T