Canonical Allele Identifier: PA2830145190
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 282673
ClinVar RCV Id: RCV000382434 RCV001136988 RCV003517165
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476505.3:p.Gln347Arg
CA2189440
NM_057164.5:c.1040A>G