Canonical Allele Identifier: PA2830150601
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 224696
ClinVar RCV Id: RCV000233428 RCV000327869 RCV000686686 RCV001589105
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Ile2517Thr
CA2187607
NM_057167.4:c.7550T>C