Canonical Allele Identifier: PA658676937
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 476537
ClinVar RCV Id: RCV000543905 RCV000593713 RCV001329871 RCV002526737
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Glu1912Lys
CA2188590
NM_004369.4:c.5734G>A