Canonical Allele Identifier: PA2830146309
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 285680
ClinVar RCV Id: RCV000329391 RCV001048907
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476506.3:p.Gly797Glu
CA2189272
NM_057165.5:c.2390G>A