Canonical Allele Identifier: PA248101
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 199093
ClinVar RCV Id: RCV000180600 RCV000803816
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Arg1308Gln
CA248099
NM_004369.4:c.3923G>A