Canonical Allele Identifier: PA916054642
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 17166
ClinVar RCV Id: RCV000529271 RCV001091900 RCV003764602
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478055.2:p.Cys777Arg
CA257728
NM_058175.3:c.2329T>C