Canonical Allele Identifier: PA645434671
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 285469
ClinVar RCV Id: RCV000725669 RCV001055469 RCV002518968
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Lys1000Glu
CA10073133
NM_001849.4:c.2998A>G