Canonical Allele Identifier: PA094147
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 17149
ClinVar RCV Id: RCV000018689 RCV003764588 RCV000790696
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Gly1679Glu
CA239569
NM_004369.4:c.5036G>A