Canonical Allele Identifier: PA2830152365
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_478054.2:p.His667Arg
CA410539694
NM_058174.3:c.2000A>G