Canonical Allele Identifier: PA2830151947
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 521397
ClinVar RCV Id: RCV000624324 RCV002532835
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478054.2:p.Gly301Asp
CA410525581
NM_058174.3:c.902G>A