Canonical Allele Identifier: PA244796
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 196954
ClinVar RCV Id: RCV000279845 RCV000431648 RCV001087752
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Lys937Glu
CA244794
NM_001848.3:c.2809A>G