Canonical Allele Identifier: PA645434532
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 283255
ClinVar RCV Id: RCV000363837 RCV000653524 RCV001141920 RCV003338498
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Arg965Cys
CA10073082
NM_001849.4:c.2893C>T