Canonical Allele Identifier: PA2830145243
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 198168
ClinVar RCV Id: RCV000179436 RCV000653600
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476505.3:p.Pro408His
CA246680
NM_057164.5:c.1223C>A