Canonical Allele Identifier: PA2830147694
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 281820
ClinVar RCV Id: RCV000404804 RCV000585228 RCV001088919
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Val1338Leu
CA2188570
NM_057166.5:c.4012G>C
CA351185183
NM_057166.5:c.4012G>T