Canonical Allele Identifier: PA916054107
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 340361
ClinVar RCV Id: RCV000342235 RCV000393836 RCV001056159 RCV002523191 RCV003144235
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478055.2:p.Arg181His
CA10071329
NM_058175.3:c.542G>A