Canonical Allele Identifier: PA645401134
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 290358
ClinVar RCV Id: RCV000389117 RCV001053474
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Glu595Lys
CA10070572
NM_001848.3:c.1783G>A