Canonical Allele Identifier: PA645455330
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 432635
ClinVar RCV Id: RCV000497764 RCV002524090
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Arg1632Trp
CA2188792
NM_004369.4:c.4894C>T