Canonical Allele Identifier: PA2830148632
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_476507.3:p.Pro2525Ser
CA2187278
NM_057166.5:c.7573C>T