Canonical Allele Identifier: PA658663181
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 476496
ClinVar RCV Id: RCV000535368
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Gly292Arg
CA410525191
NM_001849.4:c.874G>C