Canonical Allele Identifier: PA645434372
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 289595
ClinVar RCV Id: RCV000264028 RCV000706105 RCV004535434
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Val877Met
CA10072957
NM_001849.4:c.2629G>A