Canonical Allele Identifier: PA645434511
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 287935
ClinVar RCV Id: RCV000390666 RCV000690514
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Arg937Trp
CA10073031
NM_001849.4:c.2809C>T