Canonical Allele Identifier: PA916053767
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 285594
ClinVar RCV Id: RCV000324975 RCV000697460 RCV000725699 RCV001535515
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Val834Ile
CA2189239
NM_057167.4:c.2500G>A