Canonical Allele Identifier: PA2830152570
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 501834
ClinVar RCV Id: RCV000595928 RCV000653574 RCV002531095 RCV004530714
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478054.2:p.Val804Ile
CA10072553
NM_058174.3:c.2410G>A