Canonical Allele Identifier: PA916053662
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 501925
ClinVar RCV Id: RCV000591152 RCV001419741
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Asp948Asn
CA2188847
NM_057166.5:c.2842G>A