Canonical Allele Identifier: PA295281
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 162537
ClinVar RCV Id: RCV000512668 RCV000808953
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Glu668Lys
CA295279
NM_001849.4:c.2002G>A