Canonical Allele Identifier: PA2830150043
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 476544
ClinVar RCV Id: RCV000540239 RCV003144375
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Gln1833His
CA2188461
NM_057167.4:c.5499G>C
CA351217794
NM_057167.4:c.5499G>T