Canonical Allele Identifier: PA645433097
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 288278
ClinVar RCV Id: RCV000537791 RCV000394295 RCV001136630
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Glu210Lys
CA10071356
NM_001849.4:c.628G>A