Canonical Allele Identifier: PA2830149215
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 283020
ClinVar RCV Id: RCV000347536 RCV000689418
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Arg749His
CA2189307
NM_057167.4:c.2246G>A