Canonical Allele Identifier: PA2830152182
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2764120
ClinVar RCV Id: RCV003517661
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478054.2:p.Pro530Arg
CA410534046
NM_058174.3:c.1589C>G