Canonical Allele Identifier: PA2830147222
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 288410
ClinVar RCV Id: RCV000364187 RCV001855209
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Lys674Glu
CA10606077
NM_057166.5:c.2020A>G