Canonical Allele Identifier: PA916053594
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 285629
ClinVar RCV Id: RCV000298554 RCV001228546
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Arg58Gln
CA2189629
NM_057166.5:c.173G>A