Canonical Allele Identifier: PA2830145204
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 290167
ClinVar RCV Id: RCV000378139 RCV001329867
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476505.3:p.Arg361His
CA2189433
NM_057164.5:c.1082G>A