Canonical Allele Identifier: PA645455071
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 289937
ClinVar RCV Id: RCV000653597 RCV000765645 RCV000726400 RCV001136882
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Arg1075Trp
CA2189211
NM_004369.4:c.3223C>T