Canonical Allele Identifier: PA645455142
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 425259
ClinVar RCV Id: RCV000488365 RCV000821801
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Glu1414Gln
CA2188967
NM_004369.4:c.4240G>C