Canonical Allele Identifier: PA2830144938
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 288501
ClinVar RCV Id: RCV000397876 RCV003765657
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476505.3:p.Gly50Val
CA2189634
NM_057164.5:c.149G>T