Canonical Allele Identifier: PA2830147106
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 289131
ClinVar RCV Id: RCV000294987 RCV000658902 RCV001081807
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Thr533Met
CA2189174
NM_057166.5:c.1598C>T