Canonical Allele Identifier: PA2830150710
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_476508.2:p.Thr2666Met
CA2187492
NM_057167.4:c.7997C>T