Canonical Allele Identifier: PA658817746
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_004360.2:p.Val2448Phe
CA2187822
NM_004369.4:c.7342G>T