Canonical Allele Identifier: PA645455416
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 280028
ClinVar RCV Id: RCV000334260 RCV001059032
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Gly2053Val
CA10602841
NM_004369.4:c.6158G>T