Canonical Allele Identifier: PA916054641
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 286579
ClinVar RCV Id: RCV000367936 RCV000557776
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478055.2:p.Ala776Thr
CA10072520
NM_058175.3:c.2326G>A