Canonical Allele Identifier: PA645433379
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 340369
ClinVar RCV Id: RCV000363263 RCV000593658 RCV000393901 RCV001812879 RCV000873809
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Arg569Gln
CA10072124
NM_001849.4:c.1706G>A