Canonical Allele Identifier: PA645454600
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 290471
ClinVar RCV Id: RCV000309154 RCV001365391
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Thr95Met
CA2189899
NM_004369.4:c.284C>T