Canonical Allele Identifier: PA2830148113
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_476507.3:p.Val1841Phe
CA2187822
NM_057166.5:c.5521G>T