Canonical Allele Identifier: PA645455405
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 284869
ClinVar RCV Id: RCV000400649 RCV002521927
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Ser1941Leu
CA2188574
NM_004369.4:c.5822C>T