Canonical Allele Identifier: PA645455000
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_004360.2:p.Ser521Leu
CA2189596
NM_004369.4:c.1562C>T