Canonical Allele Identifier: PA2830151817
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 282463
ClinVar RCV Id: RCV000302508 RCV000341130 RCV000386408 RCV001086405
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478054.2:p.Val190Met
CA10071340
NM_058174.3:c.568G>A