Canonical Allele Identifier: PA2830150563
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 128822
ClinVar RCV Id: RCV000116801 RCV000550052 RCV000515400 RCV004549582
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Ala2464Val
CA231053
NM_057167.4:c.7391C>T