Canonical Allele Identifier: PA916053479
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_476505.3:p.Lys874Glu
CA10606077
NM_057164.5:c.2620A>G