Canonical Allele Identifier: PA295286
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 162539
ClinVar RCV Id: RCV000149937 RCV000316783 RCV000373797 RCV001053729 RCV002514870
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Val856Met
CA295284
NM_001849.4:c.2566G>A