Canonical Allele Identifier: PA645455436
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 289044
ClinVar RCV Id: RCV000328508 RCV000804148
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Gly2214Ser
CA2188147
NM_004369.4:c.6640G>A