Canonical Allele Identifier: PA645433532
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 287934
ClinVar RCV Id: RCV000357521 RCV000778643 RCV001059137 RCV003338507
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Arg830Trp
CA10072904
NM_001849.4:c.2488C>T