Canonical Allele Identifier: PA2830149378
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 284495
ClinVar RCV Id: RCV000343308 RCV000385431 RCV000653569
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Phe1078Leu
CA2189059
NM_057167.4:c.3234C>A
CA351198849
NM_057167.4:c.3234C>G
CA351198860
NM_057167.4:c.3232T>C