Canonical Allele Identifier: PA2830148731
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 287135
ClinVar RCV Id: RCV000387918 RCV001320693
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Arg157His
CA2189710
NM_057167.4:c.470G>A