Canonical Allele Identifier: PA2830150394
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 500808
ClinVar RCV Id: RCV000593099 RCV001480435
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Val2242Phe
CA2187822
NM_057167.4:c.6724G>T