Canonical Allele Identifier: PA2830148526
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 897652
ClinVar RCV Id: RCV001141062
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Thr2378Ser
CA351190895
NM_057166.5:c.7133C>G
CA351190900
NM_057166.5:c.7132A>T