Canonical Allele Identifier: PA2830147744
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 290297
ClinVar RCV Id: RCV000290851 RCV001850464
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Asp1407Tyr
CA2188495
NM_057166.5:c.4219G>T