Canonical Allele Identifier: PA222649
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 94970
ClinVar RCV Id: RCV000080975 RCV000525553
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Thr229Met
CA222647
NM_004369.4:c.686C>T