Canonical Allele Identifier: PA645455426
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 426588
ClinVar RCV Id: RCV000489274
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Gly2083Val
CA351216598
NM_004369.4:c.6248G>T