Canonical Allele Identifier: PA248092
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 199089
ClinVar RCV Id: RCV000374173 RCV000527934 RCV000724314
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Thr1368Met
CA248090
NM_004369.4:c.4103C>T