Canonical Allele Identifier: PA645455111
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 335124
ClinVar RCV Id: RCV000349597 RCV003144224 RCV002523124
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Ala1288Thr
CA2189057
NM_004369.4:c.3862G>A