Canonical Allele Identifier: PA658817659
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 498581
ClinVar RCV Id: RCV000591644 RCV001078890 RCV004024742
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Phe1852Ser
CA2188631
NM_004369.4:c.5555T>C