Canonical Allele Identifier: PA2830148862
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 335140
ClinVar RCV Id: RCV000404863 RCV000730387 RCV001087014
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Ser315Leu
CA2189596
NM_057167.4:c.944C>T