Canonical Allele Identifier: PA2830148148
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2440479
ClinVar RCV Id: RCV003143313
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Ala1883Val
CA351202793
NM_057166.5:c.5648C>T