Canonical Allele Identifier: PA2830150747
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 288504
ClinVar RCV Id: RCV000726172 RCV000707162
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Ala2709Val
CA2187451
NM_057167.4:c.8126C>T