Canonical Allele Identifier: PA645455446
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 287133
ClinVar RCV Id: RCV000710911 RCV004549593 RCV001207298
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Gly2297Ala
CA10605679
NM_004369.4:c.6890G>C