Canonical Allele Identifier: PA2830151686
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 282475
ClinVar RCV Id: RCV000368110 RCV000764266 RCV001045882
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478054.2:p.Val57Ile
CA10071224
NM_058174.3:c.169G>A