Canonical Allele Identifier: PA242957
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 196123
ClinVar RCV Id: RCV000351153 RCV000407370 RCV000724824 RCV001078865
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Asp869Tyr
CA242955
NM_001849.4:c.2605G>T