Canonical Allele Identifier: PA2830147582
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 290190
ClinVar RCV Id: RCV000267601 RCV000347436 RCV000792240
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Leu1217Phe
CA2188665
NM_057166.5:c.3649C>T