Canonical Allele Identifier: PA645455427
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 288924
ClinVar RCV Id: RCV000290353 RCV000653544
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Arg2097Trp
CA2188357
NM_004369.4:c.6289C>T