Canonical Allele Identifier: PA645455411
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 291226
ClinVar RCV Id: RCV000380316 RCV000726678 RCV001203447 RCV004549631
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Arg1990Gln
CA2188509
NM_004369.4:c.5969G>A