Canonical Allele Identifier: PA244833
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 196977
ClinVar RCV Id: RCV000177877 RCV000352490 RCV003114326 RCV003387788
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Lys2483Glu
CA244831
NM_004369.4:c.7447A>G