Canonical Allele Identifier: PA2830146500
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 425260
ClinVar RCV Id: RCV000821173 RCV000487720 RCV001731716
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476506.3:p.Leu1017Pro
CA2189121
NM_057165.5:c.3050T>C