Canonical Allele Identifier: PA645400862
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 283242
ClinVar RCV Id: RCV000344836 RCV000384249 RCV001054436
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Glu251Lys
CA10069713
NM_001848.3:c.751G>A