Canonical Allele Identifier: PA916054381
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 282525
ClinVar RCV Id: RCV000343634 RCV000699520
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478055.2:p.Arg377His
CA10071716
NM_058175.3:c.1130G>A