Canonical Allele Identifier: PA2830149566
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 193672
ClinVar RCV Id: RCV000173801 RCV000794950
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Gln1273Leu
CA239253
NM_057167.4:c.3818A>T