Canonical Allele Identifier: PA916054298
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 283758
ClinVar RCV Id: RCV000337509 RCV002518892
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478055.2:p.Gly301Ser
CA10604587
NM_058175.3:c.901G>A