Canonical Allele Identifier: PA2830149049
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 288643
ClinVar RCV Id: RCV000367426 RCV000542766 RCV000726195 RCV003992263
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Pro538Leu
CA2189449
NM_057167.4:c.1613C>T