Canonical Allele Identifier: PA205354
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 210746
ClinVar RCV Id: RCV000192499 RCV001069846
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Arg858His
CA205352
NM_001848.3:c.2573G>A