Canonical Allele Identifier: PA094171
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 194744
ClinVar RCV Id: RCV000175185 RCV000724747
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Gly2080Asp
CA275040
NM_004369.4:c.6239G>A