Canonical Allele Identifier: PA645455038
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 283049
ClinVar RCV Id: RCV000286708 RCV001246875
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Tyr727Ser
CA2189462
NM_004369.4:c.2180A>C