Canonical Allele Identifier: PA658817537
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 542997
ClinVar RCV Id: RCV000653588 RCV003144454 RCV004025911
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Val1092Ile
CA2189202
NM_004369.4:c.3274G>A