Canonical Allele Identifier: PA645454996
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 288877
ClinVar RCV Id: RCV000361775 RCV000390040 RCV000550927
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Arg513Gln
CA2189602
NM_004369.4:c.1538G>A