Canonical Allele Identifier: PA645455282
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 284145

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Asp1483Val
CA2188893
NM_004369.4:c.4448A>T