Canonical Allele Identifier: PA658663311
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 476470
ClinVar RCV Id: RCV000525313 RCV001139199 RCV001139198 RCV003229838
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Val824Met
CA10072899
NM_001849.4:c.2470G>A