Canonical Allele Identifier: PA2830152038
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 285233
ClinVar RCV Id: RCV000314635 RCV000653674 RCV002274976 RCV004543063
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478054.2:p.Arg377Cys
CA10071715
NM_058174.3:c.1129C>T