Canonical Allele Identifier: PA916054417
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 224685
ClinVar RCV Id: RCV000234070 RCV000685020 RCV000726521
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478055.2:p.Arg453His
CA10575986
NM_058175.3:c.1358G>A