Canonical Allele Identifier: PA645455127
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 286160
ClinVar RCV Id: RCV000353475 RCV000625838 RCV003338503
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Asp1374Val
CA2188989
NM_004369.4:c.4121A>T