Canonical Allele Identifier: PA2573220218
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1501565
ClinVar RCV Id: RCV002017566
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Lys324_Gly326del
CA2573157624
NM_001848.3:c.971_979del