Canonical Allele Identifier: PA645433537
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 282390
ClinVar RCV Id: RCV000362949 RCV001855103
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Glu846Lys
CA10072920
NM_001849.4:c.2536G>A