Canonical Allele Identifier: PA916054485
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 93920
ClinVar RCV Id: RCV000079859 RCV000370549 RCV000276065 RCV000658928 RCV001086666 RCV004537332
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478055.2:p.Thr590Met
CA147444
NM_058175.3:c.1769C>T