Canonical Allele Identifier: PA645455289
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 288838
ClinVar RCV Id: RCV000342827 RCV001365801
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Ser1566Leu
CA2188830
NM_004369.4:c.4697C>T