Canonical Allele Identifier: PA916054414
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 288611
ClinVar RCV Id: RCV000383351 RCV000537812
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478055.2:p.Glu450Gln
CA10071841
NM_058175.3:c.1348G>C