Canonical Allele Identifier: PA645434525
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 288392
ClinVar RCV Id: RCV000284297 RCV000824045
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Glu959Gln
CA10073071
NM_001849.4:c.2875G>C