Canonical Allele Identifier: PA916054437
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 284555
ClinVar RCV Id: RCV000270832 RCV000329762 RCV000325923 RCV000766751 RCV001087788 RCV004543048
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478055.2:p.Pro497Thr
CA10071916
NM_058175.3:c.1489C>A