Canonical Allele Identifier: PA245662
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 197483
ClinVar RCV Id: RCV000178531 RCV000818011
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Ala3163Thr
CA245660
NM_004369.4:c.9487G>A