Canonical Allele Identifier: PA916053645
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 166943
ClinVar RCV Id: RCV000528795 RCV000487673 RCV001141518
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Arg897Trp
CA233835
NM_057166.5:c.2689C>T