Canonical Allele Identifier: PA2830150625
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 284967
ClinVar RCV Id: RCV000401683 RCV001138189 RCV001360027 RCV003372676
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Arg2551Thr
CA2187585
NM_057167.4:c.7652G>C