Canonical Allele Identifier: PA645455082
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 285984
ClinVar RCV Id: RCV000725760 RCV000801843 RCV002519202
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Ala1111Thr
CA2189184
NM_004369.4:c.3331G>A