Canonical Allele Identifier: PA916053589
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 285827
ClinVar RCV Id: RCV000337261 RCV000544280
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Asn55Ser
CA2189630
NM_057166.5:c.164A>G