Canonical Allele Identifier: PA2830148751
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 197233
ClinVar RCV Id: RCV000724219 RCV000822172 RCV001818436 RCV002516769
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Ala178Thr
CA245244
NM_057167.4:c.532G>A