Canonical Allele Identifier: PA2830152181
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 290491
ClinVar RCV Id: RCV000407122 RCV001225882 RCV001820838 RCV003389051
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478054.2:p.Glu529Lys
CA10072010
NM_058174.3:c.1585G>A