Canonical Allele Identifier: PA658672245
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 451468
ClinVar RCV Id: RCV000521063 RCV001216065
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Arg137Trp
CA2189875
NM_004369.4:c.409C>T