Canonical Allele Identifier: PA658817417
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 501196
ClinVar RCV Id: RCV000598246 RCV000806334 RCV002531079
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Ala184Thr
CA2189842
NM_004369.4:c.550G>A