Canonical Allele Identifier: PA658817454
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 498765
ClinVar RCV Id: RCV000597274 RCV000808346
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Pro431Leu
CA2189665
NM_004369.4:c.1292C>T