Canonical Allele Identifier: PA2830148967
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 282106
ClinVar RCV Id: RCV000281298 RCV001226883
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Asn448Ser
CA2189505
NM_057167.4:c.1343A>G