Canonical Allele Identifier: PA645455497
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 288944
ClinVar RCV Id: RCV000726253 RCV001236572 RCV002487261
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Glu2746Lys
CA2187593
NM_004369.4:c.8236G>A