Canonical Allele Identifier: PA2830150913
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 286022
ClinVar RCV Id: RCV000361739 RCV001142818 RCV001228671 RCV004021189
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Pro2926Ser
CA2187278
NM_057167.4:c.8776C>T