Canonical Allele Identifier: PA645455448
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 284586
ClinVar RCV Id: RCV000286359 RCV000538135
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Gly2300Arg
CA2188030
NM_004369.4:c.6898G>A
CA351208372
NM_004369.4:c.6898G>C