Canonical Allele Identifier: PA645401249
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 434814
ClinVar RCV Id: RCV000499503 RCV000812752 RCV001553521
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Glu857Lys
CA10070961
NM_001848.3:c.2569G>A