Canonical Allele Identifier: PA658663138
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 476487
ClinVar RCV Id: RCV000730361 RCV001084615
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Arg115Gln
CA10071269
NM_001849.4:c.344G>A