Canonical Allele Identifier: PA658817715
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 498274
ClinVar RCV Id: RCV000594165 RCV000726810
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Gly2267Ser
CA2188081
NM_004369.4:c.6799G>A