Canonical Allele Identifier: PA2830148920
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2052628
ClinVar RCV Id: RCV002937588 RCV003146677
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Glu387Lys
CA351216889
NM_057167.4:c.1159G>A