Canonical Allele Identifier: PA2830149550
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 94934
ClinVar RCV Id: RCV000080939 RCV000558864 RCV001082187 RCV001143351
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Asn1261Asp
CA222606
NM_057167.4:c.3781A>G