Canonical Allele Identifier: PA2830151638
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 285631
ClinVar RCV Id: RCV000398769
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478054.2:p.Thr5Ile
CA10605186
NM_058174.3:c.14C>T