Canonical Allele Identifier: PA645455412
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 285696
ClinVar RCV Id: RCV000291553 RCV000301747 RCV000449495 RCV000538324 RCV003430820 RCV004547703
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Arg1990Trp
CA2188511
NM_004369.4:c.5968C>T