Canonical Allele Identifier: PA645433364
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 289309
ClinVar RCV Id: RCV000347921 RCV002518080
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Gly531Ser
CA10072012
NM_001849.4:c.1591G>A