Canonical Allele Identifier: PA645455056
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 283020
ClinVar RCV Id: RCV000347536 RCV000689418
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Arg955His
CA2189307
NM_004369.4:c.2864G>A