Canonical Allele Identifier: PA2830146780
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 128816
ClinVar RCV Id: RCV000116795 RCV000243539 RCV001083188 RCV004549580 RCV002222398
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Thr131Met
CA231050
NM_057166.5:c.392C>T