Canonical Allele Identifier: PA2830146480
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 451448
ClinVar RCV Id: RCV000522488 RCV000688426
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476506.3:p.Val994Phe
CA2189136
NM_057165.5:c.2980G>T