Canonical Allele Identifier: PA645433684
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 281054
ClinVar RCV Id: RCV000285371 RCV000377482 RCV000400296 RCV001087885
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Arg861Gln
CA10072935
NM_001849.4:c.2582G>A