Canonical Allele Identifier: PA2830148468
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 288504
ClinVar RCV Id: RCV000726172 RCV000707162
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Ala2308Val
CA2187451
NM_057166.5:c.6923C>T