Canonical Allele Identifier: PA2830149758
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 476532
ClinVar RCV Id: RCV000551304 RCV003144373 RCV003159937
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Val1504Ile
CA2188739
NM_057167.4:c.4510G>A