Canonical Allele Identifier: PA2830145727
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 288857
ClinVar RCV Id: RCV000282428 RCV001859687
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476506.3:p.Thr92Ile
CA2189757
NM_057165.5:c.275C>T