Canonical Allele Identifier: PA2830151987
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 285711
ClinVar RCV Id: RCV000370445 RCV000812303 RCV002519190
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478054.2:p.Arg338Cys
CA10071631
NM_058174.3:c.1012C>T