Canonical Allele Identifier: PA645455513
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 284096
ClinVar RCV Id: RCV000312116 RCV000558809 RCV000725390
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Thr2879Met
CA2187481
NM_004369.4:c.8636C>T