Canonical Allele Identifier: PA2830151890
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 285193
ClinVar RCV Id: RCV000286457 RCV000339179 RCV000513122 RCV000551936
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478054.2:p.Arg264His
CA10071456
NM_058174.3:c.791G>A