Canonical Allele Identifier: PA658810886
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 498007
ClinVar RCV Id: RCV000596493 RCV002532395
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.His667Arg
CA410539694
NM_001849.4:c.2000A>G