Canonical Allele Identifier: PA2830152458
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 282210
ClinVar RCV Id: RCV000300120 RCV000359590 RCV000363018 RCV001085703 RCV001731555
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478054.2:p.Val728Met
CA10072462
NM_058174.3:c.2182G>A