Canonical Allele Identifier: PA2830148049
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 288387
ClinVar RCV Id: RCV000291486 RCV000653586
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Asp1765Asn
CA2187923
NM_057166.5:c.5293G>A