Canonical Allele Identifier: PA658676913
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 452297
ClinVar RCV Id: RCV000792561 RCV000727271 RCV001143252
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Arg1798His
CA2188678
NM_004369.4:c.5393G>A