Canonical Allele Identifier: PA2830145443
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 335132
ClinVar RCV Id: RCV000384051 RCV000731144 RCV000686574
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476505.3:p.Arg657Trp
CA2189222
NM_057164.5:c.1969C>T