Canonical Allele Identifier: PA275052
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 194849
ClinVar RCV Id: RCV000175313 RCV002516670
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Gly2098Val
CA275050
NM_004369.4:c.6293G>T