Canonical Allele Identifier: PA2830148575
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 283949
ClinVar RCV Id: RCV000356914 RCV001242146 RCV003165732
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Val2437Ile
CA2187351
NM_057166.5:c.7309G>A