Canonical Allele Identifier: PA2830152298
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 597053
ClinVar RCV Id: RCV000733067 RCV003768230
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478054.2:p.Val619Ile
CA10072312
NM_058174.3:c.1855G>A