Canonical Allele Identifier: PA2830145819
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 284789
ClinVar RCV Id: RCV000363238 RCV001083457
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476506.3:p.Phe199Ser
CA2189682
NM_057165.5:c.596T>C