Canonical Allele Identifier: PA645455422
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 284554
ClinVar RCV Id: RCV000494333 RCV000817700 RCV002227468
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Glu2067Lys
CA2188419
NM_004369.4:c.6199G>A