Canonical Allele Identifier: PA2830148429
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 476562
ClinVar RCV Id: RCV000555066 RCV000594693
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Thr2265Met
CA2187492
NM_057166.5:c.6794C>T